Canonical Allele Identifier: CA388029954

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51944158-G-A
• MyVariant Identifiers: chr13:g.52518294G>A (hg19) ; chr13:g.51944158G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944158G>A , CM000675.2:g.51944158G>A	GRCh38
NC_000013.10:g.52518294G>A , CM000675.1:g.52518294G>A	GRCh37
NC_000013.9:g.51416295G>A	NCBI36
NG_008806.1:g.72337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1604C>T	ENSP00000489512.2:n.*894-1604C>T
ENST00000673864.2:c.*1938C>T	ENSP00000501045.2:n.*1938C>T
ENST00000674147.2:c.2573C>T	ENSP00000500964.2:p.Ala858Val
ENST00000242839.10:c.3194C>T MANE Select	ENSP00000242839.5:p.Ala1065Val
ENST00000344297.9:c.2573C>T	ENSP00000342559.5:p.Ala858Val
ENST00000400366.6:c.2861C>T	ENSP00000383217.3:p.Ala954Val
ENST00000448424.7:c.2942C>T	ENSP00000416738.3:p.Ala981Val
ENST00000673772.1:c.2960C>T	ENSP00000501168.1:p.Ala987Val
ENST00000673867.1:n.3333C>T
ENST00000674126.1:n.3557C>T
ENST00000674147.1:c.2129C>T	ENSP00000500964.1:p.Ala710Val
ENST00000242839.8:c.3194C>T	ENSP00000242839.4:p.Ala1065Val
ENST00000344297.8:c.2573C>T	ENSP00000342559.5:p.Ala858Val
ENST00000400366.5:c.2861C>T	ENSP00000383217.3:p.Ala954Val
ENST00000400370.8:c.1904C>T	ENSP00000383221.3:p.Ala635Val
ENST00000418097.7:c.2999C>T	ENSP00000393343.2:p.Ala1000Val
ENST00000448424.6:c.2960C>T	ENSP00000416738.2:p.Ala987Val
ENST00000466629.1:n.414C>T
ENST00000634296.1:c.1022-1604C>T
ENST00000634308.1:c.*295C>T	ENSP00000489234.1:n.*295C>T
ENST00000634620.1:n.3938C>T
ENST00000634810.1:n.2539C>T
ENST00000634844.1:c.3050C>T	ENSP00000489398.1:p.Ala1017Val
NM_000053.3:c.3194C>T	NP_000044.2:p.Ala1065Val
NM_001005918.2:c.2573C>T	NP_001005918.1:p.Ala858Val
NM_001243182.1:c.2861C>T	NP_001230111.1:p.Ala954Val
XM_005266423.2:c.3098C>T	XP_005266480.1:p.Ala1033Val
XM_005266424.3:c.3098C>T	XP_005266481.1:p.Ala1033Val
XM_005266427.2:c.2960C>T	XP_005266484.1:p.Ala987Val
XM_005266428.1:c.2942C>T	XP_005266485.1:p.Ala981Val
XM_005266430.3:c.3194C>T	XP_005266487.1:p.Ala1065Val
XM_005266431.2:c.3158C>T	XP_005266488.1:p.Ala1053Val
XM_005266432.2:c.2708C>T	XP_005266489.1:p.Ala903Val
XM_006719837.2:c.3098C>T	XP_006719900.1:p.Ala1033Val
XM_006719838.1:c.1010C>T	XP_006719901.1:p.Ala337Val
XM_006719839.1:c.877-1604C>T	XP_006719902.1:n.877-1604C>T
XM_011535117.1:c.3098C>T	XP_011533419.1:p.Ala1033Val
XM_011535118.1:c.3059C>T	XP_011533420.1:p.Ala1020Val
XM_011535119.1:c.3061-1604C>T	XP_011533421.1:n.3061-1604C>T
XM_011535120.1:c.2780C>T	XP_011533422.1:p.Ala927Val
XM_011535121.1:c.2731-1604C>T	XP_011533423.1:n.2731-1604C>T
XM_011535122.1:c.1862C>T	XP_011533424.1:p.Ala621Val
XR_941601.1:n.3413C>T
XR_941602.1:n.3413C>T
XR_941603.1:n.3413C>T
XR_941604.1:n.3413C>T
NM_001330578.1:c.2960C>T	NP_001317507.1:p.Ala987Val
NM_001330579.1:c.2942C>T	NP_001317508.1:p.Ala981Val
XM_005266424.4:c.3098C>T	XP_005266481.1:p.Ala1033Val
XM_005266430.4:c.3194C>T	XP_005266487.1:p.Ala1065Val
XM_005266431.4:c.3158C>T	XP_005266488.1:p.Ala1053Val
XM_006719837.3:c.3098C>T	XP_006719900.1:p.Ala1033Val
XM_011535117.3:c.3098C>T	XP_011533419.1:p.Ala1033Val
XM_017020627.1:c.3098C>T	XP_016876116.1:p.Ala1033Val
NM_000053.4:c.3194C>T MANE Select	NP_000044.2:p.Ala1065Val
NM_001005918.3:c.2573C>T	NP_001005918.1:p.Ala858Val
NM_001330579.2:c.2942C>T	NP_001317508.1:p.Ala981Val
NM_001243182.2:c.2861C>T	NP_001230111.1:p.Ala954Val
NM_001330578.2:c.2960C>T	NP_001317507.1:p.Ala987Val