Canonical Allele Identifier: CA609962644

Gene: ATP7B

Linked Data

• dbSNP Id: rs1207194930
• gnomAD v2: 13-52511392-A-G
• MyVariant Identifiers: chr13:g.52511392A>G (hg19) ; chr13:g.51937256A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937256A>G , CM000675.2:g.51937256A>G	GRCh38
NC_000013.10:g.52511392A>G , CM000675.1:g.52511392A>G	GRCh37
NC_000013.9:g.51409393A>G	NCBI36
NG_008806.1:g.79239T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1671+20T>C	ENSP00000489512.2:n.*1671+20T>C
ENST00000673864.2:c.*2765+20T>C	ENSP00000501045.2:n.*2765+20T>C
ENST00000674147.2:c.3400+20T>C	ENSP00000500964.2:n.3400+20T>C
ENST00000242839.10:c.4021+20T>C MANE Select	ENSP00000242839.5:n.4021+20T>C
ENST00000344297.9:c.3400+20T>C	ENSP00000342559.5:n.3400+20T>C
ENST00000400366.6:c.3688+20T>C	ENSP00000383217.3:n.3688+20T>C
ENST00000448424.7:c.3769+20T>C	ENSP00000416738.3:n.3769+20T>C
ENST00000673696.1:n.1344+20T>C
ENST00000673772.1:c.3787+20T>C	ENSP00000501168.1:n.3787+20T>C
ENST00000673867.1:n.4160+20T>C
ENST00000673923.1:n.887+20T>C
ENST00000674147.1:c.2956+20T>C	ENSP00000500964.1:n.2956+20T>C
ENST00000242839.8:c.4021+20T>C	ENSP00000242839.4:n.4021+20T>C
ENST00000344297.8:c.3400+20T>C	ENSP00000342559.5:n.3400+20T>C
ENST00000400366.5:c.3688+20T>C	ENSP00000383217.3:n.3688+20T>C
ENST00000400370.8:c.2731+20T>C	ENSP00000383221.3:n.2731+20T>C
ENST00000418097.7:c.3826+20T>C	ENSP00000393343.2:n.3826+20T>C
ENST00000448424.6:c.3787+20T>C	ENSP00000416738.2:n.3787+20T>C
ENST00000634296.1:c.1799+20T>C
ENST00000634308.1:c.*1122+20T>C	ENSP00000489234.1:n.*1122+20T>C
ENST00000634620.1:n.4765+20T>C
ENST00000634810.1:n.3366+20T>C
ENST00000634844.1:c.3877+20T>C	ENSP00000489398.1:n.3877+20T>C
NM_000053.3:c.4021+20T>C	NP_000044.2:n.4021+20T>C
NM_001005918.2:c.3400+20T>C	NP_001005918.1:n.3400+20T>C
NM_001243182.1:c.3688+20T>C	NP_001230111.1:n.3688+20T>C
XM_005266423.2:c.3925+20T>C	XP_005266480.1:n.3925+20T>C
XM_005266424.3:c.3925+20T>C	XP_005266481.1:n.3925+20T>C
XM_005266427.2:c.3787+20T>C	XP_005266484.1:n.3787+20T>C
XM_005266428.1:c.3769+20T>C	XP_005266485.1:n.3769+20T>C
XM_005266430.3:c.4021+20T>C	XP_005266487.1:n.4021+20T>C
XM_005266431.2:c.3985+20T>C	XP_005266488.1:n.3985+20T>C
XM_005266432.2:c.3535+20T>C	XP_005266489.1:n.3535+20T>C
XM_006719837.2:c.3925+20T>C	XP_006719900.1:n.3925+20T>C
XM_006719838.1:c.1837+20T>C	XP_006719901.1:n.1837+20T>C
XM_006719839.1:c.1654+20T>C	XP_006719902.1:n.1654+20T>C
XM_011535117.1:c.3925+20T>C	XP_011533419.1:n.3925+20T>C
XM_011535118.1:c.3886+20T>C	XP_011533420.1:n.3886+20T>C
XM_011535119.1:c.3838+20T>C	XP_011533421.1:n.3838+20T>C
XM_011535120.1:c.3607+20T>C	XP_011533422.1:n.3607+20T>C
XM_011535121.1:c.3508+20T>C	XP_011533423.1:n.3508+20T>C
XM_011535122.1:c.2689+20T>C	XP_011533424.1:n.2689+20T>C
XR_941601.1:n.4240+20T>C
XR_941602.1:n.4240+20T>C
XR_941603.1:n.4240+20T>C
XR_941604.1:n.4240+20T>C
NM_001330578.1:c.3787+20T>C	NP_001317507.1:n.3787+20T>C
NM_001330579.1:c.3769+20T>C	NP_001317508.1:n.3769+20T>C
XM_005266424.4:c.3925+20T>C	XP_005266481.1:n.3925+20T>C
XM_005266430.4:c.4021+20T>C	XP_005266487.1:n.4021+20T>C
XM_005266431.4:c.3985+20T>C	XP_005266488.1:n.3985+20T>C
XM_006719837.3:c.3925+20T>C	XP_006719900.1:n.3925+20T>C
XM_011535117.3:c.3925+20T>C	XP_011533419.1:n.3925+20T>C
XM_017020627.1:c.3925+20T>C	XP_016876116.1:n.3925+20T>C
NM_000053.4:c.4021+20T>C MANE Select	NP_000044.2:n.4021+20T>C
NM_001005918.3:c.3400+20T>C	NP_001005918.1:n.3400+20T>C
NM_001330579.2:c.3769+20T>C	NP_001317508.1:n.3769+20T>C
NM_001243182.2:c.3688+20T>C	NP_001230111.1:n.3688+20T>C
NM_001330578.2:c.3787+20T>C	NP_001317507.1:n.3787+20T>C