Canonical Allele Identifier: CA483893946

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515260G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941124G>A , CM000675.2:g.51941124G>A	GRCh38
NC_000013.10:g.52515260G>A , CM000675.1:g.52515260G>A	GRCh37
NC_000013.9:g.51413261G>A	NCBI36
NG_008806.1:g.75371C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1163C>T	ENSP00000489512.2:n.*1163C>T
ENST00000673864.2:c.*2257C>T	ENSP00000501045.2:n.*2257C>T
ENST00000674147.2:c.2892C>T	ENSP00000500964.2:p.Asp964=
ENST00000242839.10:c.3513C>T MANE Select	ENSP00000242839.5:p.Asp1171=
ENST00000344297.9:c.2892C>T	ENSP00000342559.5:p.Asp964=
ENST00000400366.6:c.3180C>T	ENSP00000383217.3:p.Asp1060=
ENST00000448424.7:c.3261C>T	ENSP00000416738.3:p.Asp1087=
ENST00000673772.1:c.3279C>T	ENSP00000501168.1:p.Asp1093=
ENST00000673867.1:n.3652C>T
ENST00000674126.1:n.3876C>T
ENST00000674147.1:c.2448C>T	ENSP00000500964.1:p.Asp816=
ENST00000242839.8:c.3513C>T	ENSP00000242839.4:p.Asp1171=
ENST00000344297.8:c.2892C>T	ENSP00000342559.5:p.Asp964=
ENST00000400366.5:c.3180C>T	ENSP00000383217.3:p.Asp1060=
ENST00000400370.8:c.2223C>T	ENSP00000383221.3:p.Asp741=
ENST00000418097.7:c.3318C>T	ENSP00000393343.2:p.Asp1106=
ENST00000448424.6:c.3279C>T	ENSP00000416738.2:p.Asp1093=
ENST00000634296.1:c.1291C>T
ENST00000634308.1:c.*614C>T	ENSP00000489234.1:n.*614C>T
ENST00000634620.1:n.4257C>T
ENST00000634810.1:n.2858C>T
ENST00000634844.1:c.3369C>T	ENSP00000489398.1:p.Asp1123=
NM_000053.3:c.3513C>T	NP_000044.2:p.Asp1171=
NM_001005918.2:c.2892C>T	NP_001005918.1:p.Asp964=
NM_001243182.1:c.3180C>T	NP_001230111.1:p.Asp1060=
XM_005266423.2:c.3417C>T	XP_005266480.1:p.Asp1139=
XM_005266424.3:c.3417C>T	XP_005266481.1:p.Asp1139=
XM_005266427.2:c.3279C>T	XP_005266484.1:p.Asp1093=
XM_005266428.1:c.3261C>T	XP_005266485.1:p.Asp1087=
XM_005266430.3:c.3513C>T	XP_005266487.1:p.Asp1171=
XM_005266431.2:c.3477C>T	XP_005266488.1:p.Asp1159=
XM_005266432.2:c.3027C>T	XP_005266489.1:p.Asp1009=
XM_006719837.2:c.3417C>T	XP_006719900.1:p.Asp1139=
XM_006719838.1:c.1329C>T	XP_006719901.1:p.Asp443=
XM_006719839.1:c.1146C>T	XP_006719902.1:p.Asp382=
XM_011535117.1:c.3417C>T	XP_011533419.1:p.Asp1139=
XM_011535118.1:c.3378C>T	XP_011533420.1:p.Asp1126=
XM_011535119.1:c.3330C>T	XP_011533421.1:p.Asp1110=
XM_011535120.1:c.3099C>T	XP_011533422.1:p.Asp1033=
XM_011535121.1:c.3000C>T	XP_011533423.1:p.Asp1000=
XM_011535122.1:c.2181C>T	XP_011533424.1:p.Asp727=
XR_941601.1:n.3732C>T
XR_941602.1:n.3732C>T
XR_941603.1:n.3732C>T
XR_941604.1:n.3732C>T
NM_001330578.1:c.3279C>T	NP_001317507.1:p.Asp1093=
NM_001330579.1:c.3261C>T	NP_001317508.1:p.Asp1087=
XM_005266424.4:c.3417C>T	XP_005266481.1:p.Asp1139=
XM_005266430.4:c.3513C>T	XP_005266487.1:p.Asp1171=
XM_005266431.4:c.3477C>T	XP_005266488.1:p.Asp1159=
XM_006719837.3:c.3417C>T	XP_006719900.1:p.Asp1139=
XM_011535117.3:c.3417C>T	XP_011533419.1:p.Asp1139=
XM_017020627.1:c.3417C>T	XP_016876116.1:p.Asp1139=
NM_000053.4:c.3513C>T MANE Select	NP_000044.2:p.Asp1171=
NM_001005918.3:c.2892C>T	NP_001005918.1:p.Asp964=
NM_001330579.2:c.3261C>T	NP_001317508.1:p.Asp1087=
NM_001243182.2:c.3180C>T	NP_001230111.1:p.Asp1060=
NM_001330578.2:c.3279C>T	NP_001317507.1:p.Asp1093=