Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42405964C>T , CM000677.2:g.42405964C>T	GRCh38
NC_000015.9:g.42698162C>T , CM000677.1:g.42698162C>T	GRCh37
NC_000015.8:g.40485454C>T	NCBI36
NG_008660.1:g.62862C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.-82+996C>T	ENSP00000336840.4:n.-82+996C>T
ENST00000349748.8:c.1638+2187C>T	ENSP00000183936.4:n.1638+2187C>T
ENST00000357568.8:c.1782+2187C>T	ENSP00000350181.3:n.1782+2187C>T
ENST00000397163.8:c.1800+21C>T MANE Select	ENSP00000380349.3:n.1800+21C>T
ENST00000397204.9:c.-82+21C>T	ENSP00000380387.4:n.-82+21C>T
ENST00000466369.5:n.2291+2187C>T
ENST00000495723.1:n.2671+2187C>T
ENST00000549793.5:n.2013+2187C>T
ENST00000565173.2:n.174+1009C>T
ENST00000569136.6:c.-196+21C>T	ENSP00000455254.1:n.-196+21C>T
ENST00000638141.2:n.1653+2187C>T
ENST00000673646.1:c.364+21C>T	ENSP00000501007.1:n.364+21C>T
ENST00000673692.1:c.-4+1113C>T	ENSP00000501138.1:n.-4+1113C>T
ENST00000673705.1:c.310-3339C>T	ENSP00000501021.1:n.310-3339C>T
ENST00000673743.1:c.-437+1009C>T	ENSP00000500989.1:n.-437+1009C>T
ENST00000673750.1:c.-2442C>T	ENSP00000501173.1:n.-2442C>T
ENST00000673771.1:c.-196+996C>T	ENSP00000501023.1:n.-196+996C>T
ENST00000673839.1:c.-340+1009C>T	ENSP00000501188.1:n.-340+1009C>T
ENST00000673851.1:c.-540+21C>T	ENSP00000501142.1:n.-540+21C>T
ENST00000673854.1:n.1998C>T
ENST00000673886.1:c.-928-733C>T	ENSP00000501155.1:n.-928-733C>T
ENST00000673890.1:c.-196+1009C>T	ENSP00000501293.1:n.-196+1009C>T
ENST00000673928.1:c.-340+1009C>T	ENSP00000501099.1:n.-340+1009C>T
ENST00000673936.1:c.-196+1113C>T	ENSP00000501189.1:n.-196+1113C>T
ENST00000673939.1:c.-82+1009C>T	ENSP00000501129.1:n.-82+1009C>T
ENST00000673978.1:c.-362+1009C>T	ENSP00000500976.1:n.-362+1009C>T
ENST00000673987.1:c.-196+21C>T	ENSP00000501231.1:n.-196+21C>T
ENST00000674011.1:c.-196+1009C>T	ENSP00000501171.1:n.-196+1009C>T
ENST00000674012.1:n.75+996C>T
ENST00000674018.1:c.-540+996C>T	ENSP00000501271.1:n.-540+996C>T
ENST00000674041.1:c.-82+1009C>T	ENSP00000500956.1:n.-82+1009C>T
ENST00000674052.1:c.24+21C>T	ENSP00000501057.1:n.24+21C>T
ENST00000674064.1:n.179+1009C>T
ENST00000674093.1:c.-82+1009C>T	ENSP00000501303.1:n.-82+1009C>T
ENST00000674119.1:c.-82+1113C>T	ENSP00000501217.1:n.-82+1113C>T
ENST00000674135.1:c.-132+1009C>T	ENSP00000501178.1:n.-132+1009C>T
ENST00000674139.1:c.-2442C>T	ENSP00000501054.1:n.-2442C>T
ENST00000674146.1:c.-524+21C>T	ENSP00000501175.1:n.-524+21C>T
ENST00000674149.1:c.-524+1009C>T	ENSP00000501112.1:n.-524+1009C>T
ENST00000318023.11:c.1656+21C>T	ENSP00000326281.8:n.1656+21C>T
ENST00000337571.8:c.-82+1009C>T	ENSP00000336840.4:n.-82+1009C>T
ENST00000349748.7:c.1638+2187C>T	ENSP00000183936.4:n.1638+2187C>T
ENST00000356316.7:c.-91+1000C>T	ENSP00000348667.4:n.-91+1000C>T
ENST00000357568.7:c.1782+2187C>T	ENSP00000350181.3:n.1782+2187C>T
ENST00000397163.7:c.1800+21C>T	ENSP00000380349.3:n.1800+21C>T
ENST00000397200.8:c.264+21C>T	ENSP00000380384.4:n.264+21C>T
ENST00000397204.8:c.-82+21C>T	ENSP00000380387.4:n.-82+21C>T
ENST00000561817.5:c.-82+1009C>T	ENSP00000456575.1:n.-82+1009C>T
ENST00000565173.1:n.129+1009C>T
ENST00000565274.5:c.12+21C>T	ENSP00000457759.1:n.12+21C>T
ENST00000565559.5:c.-132+21C>T	ENSP00000457878.1:n.-132+21C>T
ENST00000567071.5:c.259+21C>T
ENST00000569136.5:c.-196+21C>T	ENSP00000455254.1:n.-196+21C>T
ENST00000569827.5:c.246+2187C>T	ENSP00000454379.1:n.246+2187C>T
NM_000070.2:c.1800+21C>T	NP_000061.1:n.1800+21C>T
NM_024344.1:c.1782+2187C>T	NP_077320.1:n.1782+2187C>T
NM_173087.1:c.1638+2187C>T	NP_775110.1:n.1638+2187C>T
NM_173088.1:c.264+21C>T	NP_775111.1:n.264+21C>T
NM_173089.1:c.-82+1009C>T	NP_775112.1:n.-82+1009C>T
NM_173090.1:c.-82+21C>T	NP_775113.1:n.-82+21C>T
NM_000070.3:c.1800+21C>T MANE Select	NP_000061.1:n.1800+21C>T
NM_024344.2:c.1782+2187C>T	NP_077320.1:n.1782+2187C>T
NM_173087.2:c.1638+2187C>T	NP_775110.1:n.1638+2187C>T
NM_173088.2:c.264+21C>T	NP_775111.1:n.264+21C>T
NM_173089.2:c.-82+1009C>T	NP_775112.1:n.-82+1009C>T
NM_173090.2:c.-82+21C>T	NP_775113.1:n.-82+21C>T