Canonical Allele Identifier: CA483893743

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513235A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939099A>G , CM000675.2:g.51939099A>G	GRCh38
NC_000013.10:g.52513235A>G , CM000675.1:g.52513235A>G	GRCh37
NC_000013.9:g.51411236A>G	NCBI36
NG_008806.1:g.77396T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1301T>C	ENSP00000489512.2:n.*1301T>C
ENST00000673864.2:c.*2395T>C	ENSP00000501045.2:n.*2395T>C
ENST00000674147.2:c.3030T>C	ENSP00000500964.2:p.Val1010=
ENST00000242839.10:c.3651T>C MANE Select	ENSP00000242839.5:p.Val1217=
ENST00000344297.9:c.3030T>C	ENSP00000342559.5:p.Val1010=
ENST00000400366.6:c.3318T>C	ENSP00000383217.3:p.Val1106=
ENST00000448424.7:c.3399T>C	ENSP00000416738.3:p.Val1133=
ENST00000673696.1:n.892T>C
ENST00000673772.1:c.3417T>C	ENSP00000501168.1:p.Val1139=
ENST00000673867.1:n.3790T>C
ENST00000673923.1:n.517T>C
ENST00000674147.1:c.2586T>C	ENSP00000500964.1:p.Val862=
ENST00000242839.8:c.3651T>C	ENSP00000242839.4:p.Val1217=
ENST00000344297.8:c.3030T>C	ENSP00000342559.5:p.Val1010=
ENST00000400366.5:c.3318T>C	ENSP00000383217.3:p.Val1106=
ENST00000400370.8:c.2361T>C	ENSP00000383221.3:p.Val787=
ENST00000418097.7:c.3456T>C	ENSP00000393343.2:p.Val1152=
ENST00000448424.6:c.3417T>C	ENSP00000416738.2:p.Val1139=
ENST00000634296.1:c.1429T>C
ENST00000634308.1:c.*752T>C	ENSP00000489234.1:n.*752T>C
ENST00000634620.1:n.4395T>C
ENST00000634810.1:n.2996T>C
ENST00000634844.1:c.3507T>C	ENSP00000489398.1:p.Val1169=
NM_000053.3:c.3651T>C	NP_000044.2:p.Val1217=
NM_001005918.2:c.3030T>C	NP_001005918.1:p.Val1010=
NM_001243182.1:c.3318T>C	NP_001230111.1:p.Val1106=
XM_005266423.2:c.3555T>C	XP_005266480.1:p.Val1185=
XM_005266424.3:c.3555T>C	XP_005266481.1:p.Val1185=
XM_005266427.2:c.3417T>C	XP_005266484.1:p.Val1139=
XM_005266428.1:c.3399T>C	XP_005266485.1:p.Val1133=
XM_005266430.3:c.3651T>C	XP_005266487.1:p.Val1217=
XM_005266431.2:c.3615T>C	XP_005266488.1:p.Val1205=
XM_005266432.2:c.3165T>C	XP_005266489.1:p.Val1055=
XM_006719837.2:c.3555T>C	XP_006719900.1:p.Val1185=
XM_006719838.1:c.1467T>C	XP_006719901.1:p.Val489=
XM_006719839.1:c.1284T>C	XP_006719902.1:p.Val428=
XM_011535117.1:c.3555T>C	XP_011533419.1:p.Val1185=
XM_011535118.1:c.3516T>C	XP_011533420.1:p.Val1172=
XM_011535119.1:c.3468T>C	XP_011533421.1:p.Val1156=
XM_011535120.1:c.3237T>C	XP_011533422.1:p.Val1079=
XM_011535121.1:c.3138T>C	XP_011533423.1:p.Val1046=
XM_011535122.1:c.2319T>C	XP_011533424.1:p.Val773=
XR_941601.1:n.3870T>C
XR_941602.1:n.3870T>C
XR_941603.1:n.3870T>C
XR_941604.1:n.3870T>C
NM_001330578.1:c.3417T>C	NP_001317507.1:p.Val1139=
NM_001330579.1:c.3399T>C	NP_001317508.1:p.Val1133=
XM_005266424.4:c.3555T>C	XP_005266481.1:p.Val1185=
XM_005266430.4:c.3651T>C	XP_005266487.1:p.Val1217=
XM_005266431.4:c.3615T>C	XP_005266488.1:p.Val1205=
XM_006719837.3:c.3555T>C	XP_006719900.1:p.Val1185=
XM_011535117.3:c.3555T>C	XP_011533419.1:p.Val1185=
XM_017020627.1:c.3555T>C	XP_016876116.1:p.Val1185=
NM_000053.4:c.3651T>C MANE Select	NP_000044.2:p.Val1217=
NM_001005918.3:c.3030T>C	NP_001005918.1:p.Val1010=
NM_001330579.2:c.3399T>C	NP_001317508.1:p.Val1133=
NM_001243182.2:c.3318T>C	NP_001230111.1:p.Val1106=
NM_001330578.2:c.3417T>C	NP_001317507.1:p.Val1139=