Canonical Allele Identifier: CA171310

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 157945
• ClinVar RCV Id: RCV000145270 ; RCV000675167 ; RCV001508710
• dbSNP Id: rs587783309
• gnomAD v3: 13-51944164-G-A
• gnomAD v4: 13-51944164-G-A
• COSMIC: COSM4048036
• MyVariant Identifiers: chr13:g.52518300G>A (hg19) ; chr13:g.51944164G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944164G>A , CM000675.2:g.51944164G>A	GRCh38
NC_000013.10:g.52518300G>A , CM000675.1:g.52518300G>A	GRCh37
NC_000013.9:g.51416301G>A	NCBI36
NG_008806.1:g.72331C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1610C>T	ENSP00000489512.2:n.*894-1610C>T
ENST00000673864.2:c.*1932C>T	ENSP00000501045.2:n.*1932C>T
ENST00000674147.2:c.2567C>T	ENSP00000500964.2:p.Ala856Val
ENST00000242839.10:c.3188C>T MANE Select	ENSP00000242839.5:p.Ala1063Val
ENST00000344297.9:c.2567C>T	ENSP00000342559.5:p.Ala856Val
ENST00000400366.6:c.2855C>T	ENSP00000383217.3:p.Ala952Val
ENST00000448424.7:c.2936C>T	ENSP00000416738.3:p.Ala979Val
ENST00000673772.1:c.2954C>T	ENSP00000501168.1:p.Ala985Val
ENST00000673867.1:n.3327C>T
ENST00000674126.1:n.3551C>T
ENST00000674147.1:c.2123C>T	ENSP00000500964.1:p.Ala708Val
ENST00000242839.8:c.3188C>T	ENSP00000242839.4:p.Ala1063Val
ENST00000344297.8:c.2567C>T	ENSP00000342559.5:p.Ala856Val
ENST00000400366.5:c.2855C>T	ENSP00000383217.3:p.Ala952Val
ENST00000400370.8:c.1898C>T	ENSP00000383221.3:p.Ala633Val
ENST00000418097.7:c.2993C>T	ENSP00000393343.2:p.Ala998Val
ENST00000448424.6:c.2954C>T	ENSP00000416738.2:p.Ala985Val
ENST00000466629.1:n.408C>T
ENST00000634296.1:c.1022-1610C>T
ENST00000634308.1:c.*289C>T	ENSP00000489234.1:n.*289C>T
ENST00000634620.1:n.3932C>T
ENST00000634810.1:n.2533C>T
ENST00000634844.1:c.3044C>T	ENSP00000489398.1:p.Ala1015Val
NM_000053.3:c.3188C>T	NP_000044.2:p.Ala1063Val
NM_001005918.2:c.2567C>T	NP_001005918.1:p.Ala856Val
NM_001243182.1:c.2855C>T	NP_001230111.1:p.Ala952Val
XM_005266423.2:c.3092C>T	XP_005266480.1:p.Ala1031Val
XM_005266424.3:c.3092C>T	XP_005266481.1:p.Ala1031Val
XM_005266427.2:c.2954C>T	XP_005266484.1:p.Ala985Val
XM_005266428.1:c.2936C>T	XP_005266485.1:p.Ala979Val
XM_005266430.3:c.3188C>T	XP_005266487.1:p.Ala1063Val
XM_005266431.2:c.3152C>T	XP_005266488.1:p.Ala1051Val
XM_005266432.2:c.2702C>T	XP_005266489.1:p.Ala901Val
XM_006719837.2:c.3092C>T	XP_006719900.1:p.Ala1031Val
XM_006719838.1:c.1004C>T	XP_006719901.1:p.Ala335Val
XM_006719839.1:c.877-1610C>T	XP_006719902.1:n.877-1610C>T
XM_011535117.1:c.3092C>T	XP_011533419.1:p.Ala1031Val
XM_011535118.1:c.3053C>T	XP_011533420.1:p.Ala1018Val
XM_011535119.1:c.3061-1610C>T	XP_011533421.1:n.3061-1610C>T
XM_011535120.1:c.2774C>T	XP_011533422.1:p.Ala925Val
XM_011535121.1:c.2731-1610C>T	XP_011533423.1:n.2731-1610C>T
XM_011535122.1:c.1856C>T	XP_011533424.1:p.Ala619Val
XR_941601.1:n.3407C>T
XR_941602.1:n.3407C>T
XR_941603.1:n.3407C>T
XR_941604.1:n.3407C>T
NM_001330578.1:c.2954C>T	NP_001317507.1:p.Ala985Val
NM_001330579.1:c.2936C>T	NP_001317508.1:p.Ala979Val
XM_005266424.4:c.3092C>T	XP_005266481.1:p.Ala1031Val
XM_005266430.4:c.3188C>T	XP_005266487.1:p.Ala1063Val
XM_005266431.4:c.3152C>T	XP_005266488.1:p.Ala1051Val
XM_006719837.3:c.3092C>T	XP_006719900.1:p.Ala1031Val
XM_011535117.3:c.3092C>T	XP_011533419.1:p.Ala1031Val
XM_017020627.1:c.3092C>T	XP_016876116.1:p.Ala1031Val
NM_000053.4:c.3188C>T MANE Select	NP_000044.2:p.Ala1063Val
NM_001005918.3:c.2567C>T	NP_001005918.1:p.Ala856Val
NM_001330579.2:c.2936C>T	NP_001317508.1:p.Ala979Val
NM_001243182.2:c.2855C>T	NP_001230111.1:p.Ala952Val
NM_001330578.2:c.2954C>T	NP_001317507.1:p.Ala985Val