Canonical Allele Identifier: CA483893928

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515227C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941091C>G , CM000675.2:g.51941091C>G	GRCh38
NC_000013.10:g.52515227C>G , CM000675.1:g.52515227C>G	GRCh37
NC_000013.9:g.51413228C>G	NCBI36
NG_008806.1:g.75404G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1196G>C	ENSP00000489512.2:n.*1196G>C
ENST00000673864.2:c.*2290G>C	ENSP00000501045.2:n.*2290G>C
ENST00000674147.2:c.2925G>C	ENSP00000500964.2:p.Val975=
ENST00000242839.10:c.3546G>C MANE Select	ENSP00000242839.5:p.Val1182=
ENST00000344297.9:c.2925G>C	ENSP00000342559.5:p.Val975=
ENST00000400366.6:c.3213G>C	ENSP00000383217.3:p.Val1071=
ENST00000448424.7:c.3294G>C	ENSP00000416738.3:p.Val1098=
ENST00000673772.1:c.3312G>C	ENSP00000501168.1:p.Val1104=
ENST00000673867.1:n.3685G>C
ENST00000674126.1:n.3909G>C
ENST00000674147.1:c.2481G>C	ENSP00000500964.1:p.Val827=
ENST00000242839.8:c.3546G>C	ENSP00000242839.4:p.Val1182=
ENST00000344297.8:c.2925G>C	ENSP00000342559.5:p.Val975=
ENST00000400366.5:c.3213G>C	ENSP00000383217.3:p.Val1071=
ENST00000400370.8:c.2256G>C	ENSP00000383221.3:p.Val752=
ENST00000418097.7:c.3351G>C	ENSP00000393343.2:p.Val1117=
ENST00000448424.6:c.3312G>C	ENSP00000416738.2:p.Val1104=
ENST00000634296.1:c.1324G>C
ENST00000634308.1:c.*647G>C	ENSP00000489234.1:n.*647G>C
ENST00000634620.1:n.4290G>C
ENST00000634810.1:n.2891G>C
ENST00000634844.1:c.3402G>C	ENSP00000489398.1:p.Val1134=
NM_000053.3:c.3546G>C	NP_000044.2:p.Val1182=
NM_001005918.2:c.2925G>C	NP_001005918.1:p.Val975=
NM_001243182.1:c.3213G>C	NP_001230111.1:p.Val1071=
XM_005266423.2:c.3450G>C	XP_005266480.1:p.Val1150=
XM_005266424.3:c.3450G>C	XP_005266481.1:p.Val1150=
XM_005266427.2:c.3312G>C	XP_005266484.1:p.Val1104=
XM_005266428.1:c.3294G>C	XP_005266485.1:p.Val1098=
XM_005266430.3:c.3546G>C	XP_005266487.1:p.Val1182=
XM_005266431.2:c.3510G>C	XP_005266488.1:p.Val1170=
XM_005266432.2:c.3060G>C	XP_005266489.1:p.Val1020=
XM_006719837.2:c.3450G>C	XP_006719900.1:p.Val1150=
XM_006719838.1:c.1362G>C	XP_006719901.1:p.Val454=
XM_006719839.1:c.1179G>C	XP_006719902.1:p.Val393=
XM_011535117.1:c.3450G>C	XP_011533419.1:p.Val1150=
XM_011535118.1:c.3411G>C	XP_011533420.1:p.Val1137=
XM_011535119.1:c.3363G>C	XP_011533421.1:p.Val1121=
XM_011535120.1:c.3132G>C	XP_011533422.1:p.Val1044=
XM_011535121.1:c.3033G>C	XP_011533423.1:p.Val1011=
XM_011535122.1:c.2214G>C	XP_011533424.1:p.Val738=
XR_941601.1:n.3765G>C
XR_941602.1:n.3765G>C
XR_941603.1:n.3765G>C
XR_941604.1:n.3765G>C
NM_001330578.1:c.3312G>C	NP_001317507.1:p.Val1104=
NM_001330579.1:c.3294G>C	NP_001317508.1:p.Val1098=
XM_005266424.4:c.3450G>C	XP_005266481.1:p.Val1150=
XM_005266430.4:c.3546G>C	XP_005266487.1:p.Val1182=
XM_005266431.4:c.3510G>C	XP_005266488.1:p.Val1170=
XM_006719837.3:c.3450G>C	XP_006719900.1:p.Val1150=
XM_011535117.3:c.3450G>C	XP_011533419.1:p.Val1150=
XM_017020627.1:c.3450G>C	XP_016876116.1:p.Val1150=
NM_000053.4:c.3546G>C MANE Select	NP_000044.2:p.Val1182=
NM_001005918.3:c.2925G>C	NP_001005918.1:p.Val975=
NM_001330579.2:c.3294G>C	NP_001317508.1:p.Val1098=
NM_001243182.2:c.3213G>C	NP_001230111.1:p.Val1071=
NM_001330578.2:c.3312G>C	NP_001317507.1:p.Val1104=