Canonical Allele Identifier: CA6988847

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 556921
• ClinVar RCV Id: RCV000672990 ; RCV003489792
• dbSNP Id: rs777791532
• ExAC: 13:52520496 A / G
• gnomAD v2: 13-52520496-A-G
• gnomAD v4: 13-51946360-A-G
• MyVariant Identifiers: chr13:g.52520496A>G (hg19) ; chr13:g.51946360A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946360A>G , CM000675.2:g.51946360A>G	GRCh38
NC_000013.10:g.52520496A>G , CM000675.1:g.52520496A>G	GRCh37
NC_000013.9:g.51418497A>G	NCBI36
NG_008806.1:g.70135T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*817T>C	ENSP00000489512.2:n.*817T>C
ENST00000673864.2:c.*1728T>C	ENSP00000501045.2:n.*1728T>C
ENST00000674147.2:c.2363T>C	ENSP00000500964.2:p.Val788Ala
ENST00000242839.10:c.2984T>C MANE Select	ENSP00000242839.5:p.Val995Ala
ENST00000344297.9:c.2363T>C	ENSP00000342559.5:p.Val788Ala
ENST00000400366.6:c.2651T>C	ENSP00000383217.3:p.Val884Ala
ENST00000448424.7:c.2732T>C	ENSP00000416738.3:p.Val911Ala
ENST00000673772.1:c.2750T>C	ENSP00000501168.1:p.Val917Ala
ENST00000673867.1:n.1131T>C
ENST00000674126.1:n.3347T>C
ENST00000674147.1:c.1919T>C	ENSP00000500964.1:p.Val640Ala
ENST00000242839.8:c.2984T>C	ENSP00000242839.4:p.Val995Ala
ENST00000344297.8:c.2363T>C	ENSP00000342559.5:p.Val788Ala
ENST00000400366.5:c.2651T>C	ENSP00000383217.3:p.Val884Ala
ENST00000400370.8:c.1694T>C	ENSP00000383221.3:p.Val565Ala
ENST00000418097.7:c.2866-2069T>C	ENSP00000393343.2:n.2866-2069T>C
ENST00000448424.6:c.2750T>C	ENSP00000416738.2:p.Val917Ala
ENST00000466629.1:n.204T>C
ENST00000634296.1:c.945T>C
ENST00000634308.1:c.*85T>C	ENSP00000489234.1:n.*85T>C
ENST00000634620.1:n.3728T>C
ENST00000634810.1:n.2329T>C
ENST00000634844.1:c.2840T>C	ENSP00000489398.1:p.Val947Ala
ENST00000635406.1:n.330T>C
NM_000053.3:c.2984T>C	NP_000044.2:p.Val995Ala
NM_001005918.2:c.2363T>C	NP_001005918.1:p.Val788Ala
NM_001243182.1:c.2651T>C	NP_001230111.1:p.Val884Ala
XM_005266423.2:c.2888T>C	XP_005266480.1:p.Val963Ala
XM_005266424.3:c.2888T>C	XP_005266481.1:p.Val963Ala
XM_005266427.2:c.2750T>C	XP_005266484.1:p.Val917Ala
XM_005266428.1:c.2732T>C	XP_005266485.1:p.Val911Ala
XM_005266430.3:c.2984T>C	XP_005266487.1:p.Val995Ala
XM_005266431.2:c.2948T>C	XP_005266488.1:p.Val983Ala
XM_005266432.2:c.2498T>C	XP_005266489.1:p.Val833Ala
XM_006719837.2:c.2888T>C	XP_006719900.1:p.Val963Ala
XM_006719838.1:c.800T>C	XP_006719901.1:p.Val267Ala
XM_006719839.1:c.800T>C	XP_006719902.1:p.Val267Ala
XM_011535117.1:c.2888T>C	XP_011533419.1:p.Val963Ala
XM_011535118.1:c.2849T>C	XP_011533420.1:p.Val950Ala
XM_011535119.1:c.2984T>C	XP_011533421.1:p.Val995Ala
XM_011535120.1:c.2570T>C	XP_011533422.1:p.Val857Ala
XM_011535121.1:c.2730+3647T>C	XP_011533423.1:n.2730+3647T>C
XM_011535122.1:c.1652T>C	XP_011533424.1:p.Val551Ala
XR_941601.1:n.3203T>C
XR_941602.1:n.3203T>C
XR_941603.1:n.3203T>C
XR_941604.1:n.3203T>C
NM_001330578.1:c.2750T>C	NP_001317507.1:p.Val917Ala
NM_001330579.1:c.2732T>C	NP_001317508.1:p.Val911Ala
XM_005266424.4:c.2888T>C	XP_005266481.1:p.Val963Ala
XM_005266430.4:c.2984T>C	XP_005266487.1:p.Val995Ala
XM_005266431.4:c.2948T>C	XP_005266488.1:p.Val983Ala
XM_006719837.3:c.2888T>C	XP_006719900.1:p.Val963Ala
XM_011535117.3:c.2888T>C	XP_011533419.1:p.Val963Ala
XM_017020627.1:c.2888T>C	XP_016876116.1:p.Val963Ala
NM_000053.4:c.2984T>C MANE Select	NP_000044.2:p.Val995Ala
NM_001005918.3:c.2363T>C	NP_001005918.1:p.Val788Ala
NM_001330579.2:c.2732T>C	NP_001317508.1:p.Val911Ala
NM_001243182.2:c.2651T>C	NP_001230111.1:p.Val884Ala
NM_001330578.2:c.2750T>C	NP_001317507.1:p.Val917Ala