Canonical Allele Identifier: CA483894897

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520477C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946341C>G , CM000675.2:g.51946341C>G	GRCh38
NC_000013.10:g.52520477C>G , CM000675.1:g.52520477C>G	GRCh37
NC_000013.9:g.51418478C>G	NCBI36
NG_008806.1:g.70154G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*836G>C	ENSP00000489512.2:n.*836G>C
ENST00000673864.2:c.*1747G>C	ENSP00000501045.2:n.*1747G>C
ENST00000674147.2:c.2382G>C	ENSP00000500964.2:p.Val794=
ENST00000242839.10:c.3003G>C MANE Select	ENSP00000242839.5:p.Val1001=
ENST00000344297.9:c.2382G>C	ENSP00000342559.5:p.Val794=
ENST00000400366.6:c.2670G>C	ENSP00000383217.3:p.Val890=
ENST00000448424.7:c.2751G>C	ENSP00000416738.3:p.Val917=
ENST00000673772.1:c.2769G>C	ENSP00000501168.1:p.Val923=
ENST00000673867.1:n.1150G>C
ENST00000674126.1:n.3366G>C
ENST00000674147.1:c.1938G>C	ENSP00000500964.1:p.Val646=
ENST00000242839.8:c.3003G>C	ENSP00000242839.4:p.Val1001=
ENST00000344297.8:c.2382G>C	ENSP00000342559.5:p.Val794=
ENST00000400366.5:c.2670G>C	ENSP00000383217.3:p.Val890=
ENST00000400370.8:c.1713G>C	ENSP00000383221.3:p.Val571=
ENST00000418097.7:c.2866-2050G>C	ENSP00000393343.2:n.2866-2050G>C
ENST00000448424.6:c.2769G>C	ENSP00000416738.2:p.Val923=
ENST00000466629.1:n.223G>C
ENST00000634296.1:c.964G>C
ENST00000634308.1:c.*104G>C	ENSP00000489234.1:n.*104G>C
ENST00000634620.1:n.3747G>C
ENST00000634810.1:n.2348G>C
ENST00000634844.1:c.2859G>C	ENSP00000489398.1:p.Val953=
ENST00000635406.1:n.349G>C
NM_000053.3:c.3003G>C	NP_000044.2:p.Val1001=
NM_001005918.2:c.2382G>C	NP_001005918.1:p.Val794=
NM_001243182.1:c.2670G>C	NP_001230111.1:p.Val890=
XM_005266423.2:c.2907G>C	XP_005266480.1:p.Val969=
XM_005266424.3:c.2907G>C	XP_005266481.1:p.Val969=
XM_005266427.2:c.2769G>C	XP_005266484.1:p.Val923=
XM_005266428.1:c.2751G>C	XP_005266485.1:p.Val917=
XM_005266430.3:c.3003G>C	XP_005266487.1:p.Val1001=
XM_005266431.2:c.2967G>C	XP_005266488.1:p.Val989=
XM_005266432.2:c.2517G>C	XP_005266489.1:p.Val839=
XM_006719837.2:c.2907G>C	XP_006719900.1:p.Val969=
XM_006719838.1:c.819G>C	XP_006719901.1:p.Val273=
XM_006719839.1:c.819G>C	XP_006719902.1:p.Val273=
XM_011535117.1:c.2907G>C	XP_011533419.1:p.Val969=
XM_011535118.1:c.2868G>C	XP_011533420.1:p.Val956=
XM_011535119.1:c.3003G>C	XP_011533421.1:p.Val1001=
XM_011535120.1:c.2589G>C	XP_011533422.1:p.Val863=
XM_011535121.1:c.2730+3666G>C	XP_011533423.1:n.2730+3666G>C
XM_011535122.1:c.1671G>C	XP_011533424.1:p.Val557=
XR_941601.1:n.3222G>C
XR_941602.1:n.3222G>C
XR_941603.1:n.3222G>C
XR_941604.1:n.3222G>C
NM_001330578.1:c.2769G>C	NP_001317507.1:p.Val923=
NM_001330579.1:c.2751G>C	NP_001317508.1:p.Val917=
XM_005266424.4:c.2907G>C	XP_005266481.1:p.Val969=
XM_005266430.4:c.3003G>C	XP_005266487.1:p.Val1001=
XM_005266431.4:c.2967G>C	XP_005266488.1:p.Val989=
XM_006719837.3:c.2907G>C	XP_006719900.1:p.Val969=
XM_011535117.3:c.2907G>C	XP_011533419.1:p.Val969=
XM_017020627.1:c.2907G>C	XP_016876116.1:p.Val969=
NM_000053.4:c.3003G>C MANE Select	NP_000044.2:p.Val1001=
NM_001005918.3:c.2382G>C	NP_001005918.1:p.Val794=
NM_001330579.2:c.2751G>C	NP_001317508.1:p.Val917=
NM_001243182.2:c.2670G>C	NP_001230111.1:p.Val890=
NM_001330578.2:c.2769G>C	NP_001317507.1:p.Val923=