Canonical Allele Identifier: CA6989173

Gene: ATP7B

Linked Data

• dbSNP Id: rs369147145
• ExAC: 13:52536000 T / G
• gnomAD v2: 13-52536000-T-G
• gnomAD v3: 13-51961864-T-G
• gnomAD v4: 13-51961864-T-G
• MyVariant Identifiers: chr13:g.52536000T>G (hg19) ; chr13:g.51961864T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51961864T>G , CM000675.2:g.51961864T>G	GRCh38
NC_000013.10:g.52536000T>G , CM000675.1:g.52536000T>G	GRCh37
NC_000013.9:g.51434001T>G	NCBI36
NG_008806.1:g.54631A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.1919A>C	ENSP00000489512.2:p.His640Pro
ENST00000673864.2:c.*663A>C	ENSP00000501045.2:n.*663A>C
ENST00000674147.2:c.1869+3008A>C	ENSP00000500964.2:n.1869+3008A>C
ENST00000242839.10:c.1919A>C MANE Select	ENSP00000242839.5:p.His640Pro
ENST00000344297.9:c.1869+3008A>C	ENSP00000342559.5:n.1869+3008A>C
ENST00000400366.6:c.1586A>C	ENSP00000383217.3:p.His529Pro
ENST00000448424.7:c.1869+3008A>C	ENSP00000416738.3:n.1869+3008A>C
ENST00000673772.1:c.1919A>C	ENSP00000501168.1:p.His640Pro
ENST00000674147.1:c.1425+3008A>C	ENSP00000500964.1:n.1425+3008A>C
ENST00000242839.8:c.1919A>C	ENSP00000242839.4:p.His640Pro
ENST00000344297.8:c.1869+3008A>C	ENSP00000342559.5:n.1869+3008A>C
ENST00000400366.5:c.1586A>C	ENSP00000383217.3:p.His529Pro
ENST00000400370.8:c.1286-11703A>C	ENSP00000383221.3:n.1286-11703A>C
ENST00000418097.7:c.1919A>C	ENSP00000393343.2:p.His640Pro
ENST00000448424.6:c.1919A>C	ENSP00000416738.2:p.His640Pro
ENST00000482841.6:n.1665-3320A>C
ENST00000634296.1:c.55A>C
ENST00000634308.1:c.1919A>C	ENSP00000489234.1:p.His640Pro
ENST00000634620.1:n.411A>C
ENST00000634844.1:c.1919A>C	ENSP00000489398.1:p.His640Pro
ENST00000635406.1:n.212-15386A>C
NM_000053.3:c.1919A>C	NP_000044.2:p.His640Pro
NM_001005918.2:c.1869+3008A>C	NP_001005918.1:n.1869+3008A>C
NM_001243182.1:c.1586A>C	NP_001230111.1:p.His529Pro
XM_005266423.2:c.1823A>C	XP_005266480.1:p.His608Pro
XM_005266424.3:c.1823A>C	XP_005266481.1:p.His608Pro
XM_005266427.2:c.1919A>C	XP_005266484.1:p.His640Pro
XM_005266428.1:c.1869+3008A>C	XP_005266485.1:n.1869+3008A>C
XM_005266430.3:c.1919A>C	XP_005266487.1:p.His640Pro
XM_005266431.2:c.1883A>C	XP_005266488.1:p.His628Pro
XM_005266432.2:c.1869+3008A>C	XP_005266489.1:n.1869+3008A>C
XM_006719837.2:c.1823A>C	XP_006719900.1:p.His608Pro
XM_006719838.1:c.-91A>C	XP_006719901.1:n.-91A>C
XM_006719839.1:c.-91A>C	XP_006719902.1:n.-91A>C
XM_011535117.1:c.1823A>C	XP_011533419.1:p.His608Pro
XM_011535118.1:c.1919A>C	XP_011533420.1:p.His640Pro
XM_011535119.1:c.1919A>C	XP_011533421.1:p.His640Pro
XM_011535120.1:c.1708-3320A>C	XP_011533422.1:n.1708-3320A>C
XM_011535121.1:c.1919A>C	XP_011533423.1:p.His640Pro
XM_011535122.1:c.587A>C	XP_011533424.1:p.His196Pro
XR_941601.1:n.2138A>C
XR_941602.1:n.2138A>C
XR_941603.1:n.2138A>C
XR_941604.1:n.2138A>C
NM_001330578.1:c.1919A>C	NP_001317507.1:p.His640Pro
NM_001330579.1:c.1869+3008A>C	NP_001317508.1:n.1869+3008A>C
XM_005266424.4:c.1823A>C	XP_005266481.1:p.His608Pro
XM_005266430.4:c.1919A>C	XP_005266487.1:p.His640Pro
XM_005266431.4:c.1883A>C	XP_005266488.1:p.His628Pro
XM_006719837.3:c.1823A>C	XP_006719900.1:p.His608Pro
XM_011535117.3:c.1823A>C	XP_011533419.1:p.His608Pro
XM_017020627.1:c.1823A>C	XP_016876116.1:p.His608Pro
NM_000053.4:c.1919A>C MANE Select	NP_000044.2:p.His640Pro
NM_001005918.3:c.1869+3008A>C	NP_001005918.1:n.1869+3008A>C
NM_001330579.2:c.1869+3008A>C	NP_001317508.1:n.1869+3008A>C
NM_001243182.2:c.1586A>C	NP_001230111.1:p.His529Pro
NM_001330578.2:c.1919A>C	NP_001317507.1:p.His640Pro