Canonical Allele Identifier: CA6988671

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 810694
• ClinVar RCV Id: RCV001240674
• dbSNP Id: rs777879359
• ExAC: 13:52515271 C / T
• gnomAD v2: 13-52515271-C-T
• gnomAD v3: 13-51941135-C-T
• gnomAD v4: 13-51941135-C-T
• COSMIC: COSM4048034
• MyVariant Identifiers: chr13:g.52515271C>T (hg19) ; chr13:g.51941135C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941135C>T , CM000675.2:g.51941135C>T	GRCh38
NC_000013.10:g.52515271C>T , CM000675.1:g.52515271C>T	GRCh37
NC_000013.9:g.51413272C>T	NCBI36
NG_008806.1:g.75360G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1152G>A	ENSP00000489512.2:n.*1152G>A
ENST00000673864.2:c.*2246G>A	ENSP00000501045.2:n.*2246G>A
ENST00000674147.2:c.2881G>A	ENSP00000500964.2:p.Ala961Thr
ENST00000242839.10:c.3502G>A MANE Select	ENSP00000242839.5:p.Ala1168Thr
ENST00000344297.9:c.2881G>A	ENSP00000342559.5:p.Ala961Thr
ENST00000400366.6:c.3169G>A	ENSP00000383217.3:p.Ala1057Thr
ENST00000448424.7:c.3250G>A	ENSP00000416738.3:p.Ala1084Thr
ENST00000673772.1:c.3268G>A	ENSP00000501168.1:p.Ala1090Thr
ENST00000673867.1:n.3641G>A
ENST00000674126.1:n.3865G>A
ENST00000674147.1:c.2437G>A	ENSP00000500964.1:p.Ala813Thr
ENST00000242839.8:c.3502G>A	ENSP00000242839.4:p.Ala1168Thr
ENST00000344297.8:c.2881G>A	ENSP00000342559.5:p.Ala961Thr
ENST00000400366.5:c.3169G>A	ENSP00000383217.3:p.Ala1057Thr
ENST00000400370.8:c.2212G>A	ENSP00000383221.3:p.Ala738Thr
ENST00000418097.7:c.3307G>A	ENSP00000393343.2:p.Ala1103Thr
ENST00000448424.6:c.3268G>A	ENSP00000416738.2:p.Ala1090Thr
ENST00000634296.1:c.1280G>A
ENST00000634308.1:c.*603G>A	ENSP00000489234.1:n.*603G>A
ENST00000634620.1:n.4246G>A
ENST00000634810.1:n.2847G>A
ENST00000634844.1:c.3358G>A	ENSP00000489398.1:p.Ala1120Thr
NM_000053.3:c.3502G>A	NP_000044.2:p.Ala1168Thr
NM_001005918.2:c.2881G>A	NP_001005918.1:p.Ala961Thr
NM_001243182.1:c.3169G>A	NP_001230111.1:p.Ala1057Thr
XM_005266423.2:c.3406G>A	XP_005266480.1:p.Ala1136Thr
XM_005266424.3:c.3406G>A	XP_005266481.1:p.Ala1136Thr
XM_005266427.2:c.3268G>A	XP_005266484.1:p.Ala1090Thr
XM_005266428.1:c.3250G>A	XP_005266485.1:p.Ala1084Thr
XM_005266430.3:c.3502G>A	XP_005266487.1:p.Ala1168Thr
XM_005266431.2:c.3466G>A	XP_005266488.1:p.Ala1156Thr
XM_005266432.2:c.3016G>A	XP_005266489.1:p.Ala1006Thr
XM_006719837.2:c.3406G>A	XP_006719900.1:p.Ala1136Thr
XM_006719838.1:c.1318G>A	XP_006719901.1:p.Ala440Thr
XM_006719839.1:c.1135G>A	XP_006719902.1:p.Ala379Thr
XM_011535117.1:c.3406G>A	XP_011533419.1:p.Ala1136Thr
XM_011535118.1:c.3367G>A	XP_011533420.1:p.Ala1123Thr
XM_011535119.1:c.3319G>A	XP_011533421.1:p.Ala1107Thr
XM_011535120.1:c.3088G>A	XP_011533422.1:p.Ala1030Thr
XM_011535121.1:c.2989G>A	XP_011533423.1:p.Ala997Thr
XM_011535122.1:c.2170G>A	XP_011533424.1:p.Ala724Thr
XR_941601.1:n.3721G>A
XR_941602.1:n.3721G>A
XR_941603.1:n.3721G>A
XR_941604.1:n.3721G>A
NM_001330578.1:c.3268G>A	NP_001317507.1:p.Ala1090Thr
NM_001330579.1:c.3250G>A	NP_001317508.1:p.Ala1084Thr
XM_005266424.4:c.3406G>A	XP_005266481.1:p.Ala1136Thr
XM_005266430.4:c.3502G>A	XP_005266487.1:p.Ala1168Thr
XM_005266431.4:c.3466G>A	XP_005266488.1:p.Ala1156Thr
XM_006719837.3:c.3406G>A	XP_006719900.1:p.Ala1136Thr
XM_011535117.3:c.3406G>A	XP_011533419.1:p.Ala1136Thr
XM_017020627.1:c.3406G>A	XP_016876116.1:p.Ala1136Thr
NM_000053.4:c.3502G>A MANE Select	NP_000044.2:p.Ala1168Thr
NM_001005918.3:c.2881G>A	NP_001005918.1:p.Ala961Thr
NM_001330579.2:c.3250G>A	NP_001317508.1:p.Ala1084Thr
NM_001243182.2:c.3169G>A	NP_001230111.1:p.Ala1057Thr
NM_001330578.2:c.3268G>A	NP_001317507.1:p.Ala1090Thr