Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224528A>C , CM000679.2:g.7224528A>C	GRCh38
NC_000017.10:g.7127847A>C , CM000679.1:g.7127847A>C	GRCh37
NC_000017.9:g.7068571A>C	NCBI36
NG_007975.1:g.9695A>C
NG_008391.2:g.523T>G
NG_033038.1:g.15017T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1654A>C MANE Select	ENSP00000349297.5:p.Ile552Leu
ENST00000322910.9:c.*1609A>C	ENSP00000325395.5:n.*1609A>C
ENST00000350303.9:c.1588A>C	ENSP00000344152.5:p.Ile530Leu
ENST00000356839.9:c.1654A>C	ENSP00000349297.5:p.Ile552Leu
ENST00000542255.6:c.512A>C
ENST00000543245.6:c.1723A>C	ENSP00000438689.2:p.Ile575Leu
ENST00000578319.5:n.235A>C
ENST00000578711.1:n.1024A>C
ENST00000578809.5:n.226A>C
ENST00000579391.1:n.258A>C
ENST00000579425.5:n.770A>C
ENST00000579546.1:c.389A>C
ENST00000582450.1:n.162A>C
ENST00000583074.5:n.275A>C
ENST00000583848.5:c.40A>C	ENSP00000466487.1:p.Ile14Leu
ENST00000583850.5:n.425A>C
ENST00000583858.5:c.585A>C
ENST00000585203.6:n.845A>C
NM_000018.3:c.1654A>C	NP_000009.1:p.Ile552Leu
NM_001033859.2:c.1588A>C	NP_001029031.1:p.Ile530Leu
NM_001270447.1:c.1723A>C	NP_001257376.1:p.Ile575Leu
NM_001270448.1:c.1426A>C	NP_001257377.1:p.Ile476Leu
XM_006721516.2:c.1654A>C	XP_006721579.2:p.Ile552Leu
XM_011523829.1:c.1552A>C	XP_011522131.1:p.Ile518Leu
XM_011523830.1:c.1552A>C	XP_011522132.1:p.Ile518Leu
XR_934021.1:n.1757A>C
XR_934022.1:n.1663A>C
XR_934023.1:n.1663A>C
XM_006721516.3:c.1654A>C	XP_006721579.2:p.Ile552Leu
XM_011523829.2:c.1552A>C	XP_011522131.1:p.Ile518Leu
XM_011523830.2:c.1552A>C	XP_011522132.1:p.Ile518Leu
XM_024450741.1:c.1642A>C	XP_024306509.1:p.Ile548Leu
XR_934021.2:n.1709A>C
XR_934022.2:n.1615A>C
XR_934023.2:n.1615A>C
NM_000018.4:c.1654A>C MANE Select	NP_000009.1:p.Ile552Leu
NM_001033859.3:c.1588A>C	NP_001029031.1:p.Ile530Leu
NM_001270447.2:c.1723A>C	NP_001257376.1:p.Ile575Leu
NM_001270448.2:c.1426A>C	NP_001257377.1:p.Ile476Leu

Linked Data

Genomic Alleles

Transcript Alleles