Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224203G>C , CM000679.2:g.7224203G>C	GRCh38
NC_000017.10:g.7127522G>C , CM000679.1:g.7127522G>C	GRCh37
NC_000017.9:g.7068246G>C	NCBI36
NG_007975.1:g.9370G>C
NG_008391.2:g.848C>G
NG_033038.1:g.15342C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1492G>C MANE Select	ENSP00000349297.5:p.Ala498Pro
ENST00000322910.9:c.*1447G>C	ENSP00000325395.5:n.*1447G>C
ENST00000350303.9:c.1426G>C	ENSP00000344152.5:p.Ala476Pro
ENST00000356839.9:c.1492G>C	ENSP00000349297.5:p.Ala498Pro
ENST00000542255.6:c.350G>C
ENST00000543245.6:c.1561G>C	ENSP00000438689.2:p.Ala521Pro
ENST00000578711.1:n.699G>C
ENST00000579391.1:n.100G>C
ENST00000579425.5:n.608G>C
ENST00000579546.1:c.272-118G>C
ENST00000579894.5:n.279G>C
ENST00000583074.5:n.154-118G>C
ENST00000583850.5:n.267G>C
ENST00000583858.5:c.464-118G>C
ENST00000585203.6:n.683G>C
NM_000018.3:c.1492G>C	NP_000009.1:p.Ala498Pro
NM_001033859.2:c.1426G>C	NP_001029031.1:p.Ala476Pro
NM_001270447.1:c.1561G>C	NP_001257376.1:p.Ala521Pro
NM_001270448.1:c.1264G>C	NP_001257377.1:p.Ala422Pro
XM_006721516.2:c.1492G>C	XP_006721579.2:p.Ala498Pro
XM_011523829.1:c.1435-118G>C	XP_011522131.1:n.1435-118G>C
XM_011523830.1:c.1435-118G>C	XP_011522132.1:n.1435-118G>C
XR_934021.1:n.1599G>C
XR_934022.1:n.1542-118G>C
XR_934023.1:n.1542-118G>C
XM_006721516.3:c.1492G>C	XP_006721579.2:p.Ala498Pro
XM_011523829.2:c.1435-118G>C	XP_011522131.1:n.1435-118G>C
XM_011523830.2:c.1435-118G>C	XP_011522132.1:n.1435-118G>C
XM_024450741.1:c.1435-118G>C	XP_024306509.1:n.1435-118G>C
XR_934021.2:n.1551G>C
XR_934022.2:n.1494-118G>C
XR_934023.2:n.1494-118G>C
NM_000018.4:c.1492G>C MANE Select	NP_000009.1:p.Ala498Pro
NM_001033859.3:c.1426G>C	NP_001029031.1:p.Ala476Pro
NM_001270447.2:c.1561G>C	NP_001257376.1:p.Ala521Pro
NM_001270448.2:c.1264G>C	NP_001257377.1:p.Ala422Pro

Linked Data

Genomic Alleles

Transcript Alleles