Canonical Allele Identifier: CA6988499

Gene: ATP7B

Linked Data

• dbSNP Id: rs764603742
• ExAC: 13:52509804 A / G
• gnomAD v2: 13-52509804-A-G
• gnomAD v4: 13-51935668-A-G
• MyVariant Identifiers: chr13:g.52509804A>G (hg19) ; chr13:g.51935668A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935668A>G , CM000675.2:g.51935668A>G	GRCh38
NC_000013.10:g.52509804A>G , CM000675.1:g.52509804A>G	GRCh37
NC_000013.9:g.51407805A>G	NCBI36
NG_008806.1:g.80827T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1699T>C	ENSP00000489512.2:n.*1699T>C
ENST00000673864.2:c.*2793T>C	ENSP00000501045.2:n.*2793T>C
ENST00000674147.2:c.3428T>C	ENSP00000500964.2:p.Leu1143Pro
ENST00000242839.10:c.4049T>C MANE Select	ENSP00000242839.5:p.Leu1350Pro
ENST00000344297.9:c.3428T>C	ENSP00000342559.5:p.Leu1143Pro
ENST00000400366.6:c.3716T>C	ENSP00000383217.3:p.Leu1239Pro
ENST00000448424.7:c.3797T>C	ENSP00000416738.3:p.Leu1266Pro
ENST00000673696.1:n.1372T>C
ENST00000673772.1:c.3815T>C	ENSP00000501168.1:p.Leu1272Pro
ENST00000673867.1:n.4188T>C
ENST00000673923.1:n.915T>C
ENST00000674147.1:c.2984T>C	ENSP00000500964.1:p.Leu995Pro
ENST00000242839.8:c.4049T>C	ENSP00000242839.4:p.Leu1350Pro
ENST00000344297.8:c.3428T>C	ENSP00000342559.5:p.Leu1143Pro
ENST00000400366.5:c.3716T>C	ENSP00000383217.3:p.Leu1239Pro
ENST00000400370.8:c.2759T>C	ENSP00000383221.3:p.Leu920Pro
ENST00000418097.7:c.3854T>C	ENSP00000393343.2:p.Leu1285Pro
ENST00000448424.6:c.3815T>C	ENSP00000416738.2:p.Leu1272Pro
ENST00000634296.1:c.1827T>C
ENST00000634308.1:c.*1150T>C	ENSP00000489234.1:n.*1150T>C
ENST00000634620.1:n.4793T>C
ENST00000634810.1:n.3394T>C
ENST00000634844.1:c.3905T>C	ENSP00000489398.1:p.Leu1302Pro
NM_000053.3:c.4049T>C	NP_000044.2:p.Leu1350Pro
NM_001005918.2:c.3428T>C	NP_001005918.1:p.Leu1143Pro
NM_001243182.1:c.3716T>C	NP_001230111.1:p.Leu1239Pro
XM_005266423.2:c.3953T>C	XP_005266480.1:p.Leu1318Pro
XM_005266424.3:c.3953T>C	XP_005266481.1:p.Leu1318Pro
XM_005266427.2:c.3815T>C	XP_005266484.1:p.Leu1272Pro
XM_005266428.1:c.3797T>C	XP_005266485.1:p.Leu1266Pro
XM_005266430.3:c.4049T>C	XP_005266487.1:p.Leu1350Pro
XM_005266431.2:c.4013T>C	XP_005266488.1:p.Leu1338Pro
XM_005266432.2:c.3563T>C	XP_005266489.1:p.Leu1188Pro
XM_006719837.2:c.3953T>C	XP_006719900.1:p.Leu1318Pro
XM_006719838.1:c.1865T>C	XP_006719901.1:p.Leu622Pro
XM_006719839.1:c.1682T>C	XP_006719902.1:p.Leu561Pro
XM_011535117.1:c.3953T>C	XP_011533419.1:p.Leu1318Pro
XM_011535118.1:c.3914T>C	XP_011533420.1:p.Leu1305Pro
XM_011535119.1:c.3866T>C	XP_011533421.1:p.Leu1289Pro
XM_011535120.1:c.3635T>C	XP_011533422.1:p.Leu1212Pro
XM_011535121.1:c.3536T>C	XP_011533423.1:p.Leu1179Pro
XM_011535122.1:c.2717T>C	XP_011533424.1:p.Leu906Pro
XR_941601.1:n.4268T>C
XR_941602.1:n.4268T>C
XR_941603.1:n.4268T>C
XR_941604.1:n.4268T>C
NM_001330578.1:c.3815T>C	NP_001317507.1:p.Leu1272Pro
NM_001330579.1:c.3797T>C	NP_001317508.1:p.Leu1266Pro
XM_005266424.4:c.3953T>C	XP_005266481.1:p.Leu1318Pro
XM_005266430.4:c.4049T>C	XP_005266487.1:p.Leu1350Pro
XM_005266431.4:c.4013T>C	XP_005266488.1:p.Leu1338Pro
XM_006719837.3:c.3953T>C	XP_006719900.1:p.Leu1318Pro
XM_011535117.3:c.3953T>C	XP_011533419.1:p.Leu1318Pro
XM_017020627.1:c.3953T>C	XP_016876116.1:p.Leu1318Pro
NM_000053.4:c.4049T>C MANE Select	NP_000044.2:p.Leu1350Pro
NM_001005918.3:c.3428T>C	NP_001005918.1:p.Leu1143Pro
NM_001330579.2:c.3797T>C	NP_001317508.1:p.Leu1266Pro
NM_001243182.2:c.3716T>C	NP_001230111.1:p.Leu1239Pro
NM_001330578.2:c.3815T>C	NP_001317507.1:p.Leu1272Pro