Canonical Allele Identifier: CA388026205

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515260G>T (hg19) ; chr13:g.51941124G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1163C>A	ENSP00000489512.2:n.*1163C>A
ENST00000673864.2:c.*2257C>A	ENSP00000501045.2:n.*2257C>A
ENST00000674147.2:c.2892C>A	ENSP00000500964.2:p.Asp964Glu
ENST00000242839.10:c.3513C>A MANE Select	ENSP00000242839.5:p.Asp1171Glu
ENST00000344297.9:c.2892C>A	ENSP00000342559.5:p.Asp964Glu
ENST00000400366.6:c.3180C>A	ENSP00000383217.3:p.Asp1060Glu
ENST00000448424.7:c.3261C>A	ENSP00000416738.3:p.Asp1087Glu
ENST00000673772.1:c.3279C>A	ENSP00000501168.1:p.Asp1093Glu
ENST00000673867.1:n.3652C>A
ENST00000674126.1:n.3876C>A
ENST00000674147.1:c.2448C>A	ENSP00000500964.1:p.Asp816Glu
ENST00000242839.8:c.3513C>A	ENSP00000242839.4:p.Asp1171Glu
ENST00000344297.8:c.2892C>A	ENSP00000342559.5:p.Asp964Glu
ENST00000400366.5:c.3180C>A	ENSP00000383217.3:p.Asp1060Glu
ENST00000400370.8:c.2223C>A	ENSP00000383221.3:p.Asp741Glu
ENST00000418097.7:c.3318C>A	ENSP00000393343.2:p.Asp1106Glu
ENST00000448424.6:c.3279C>A	ENSP00000416738.2:p.Asp1093Glu
ENST00000634296.1:c.1291C>A
ENST00000634308.1:c.*614C>A	ENSP00000489234.1:n.*614C>A
ENST00000634620.1:n.4257C>A
ENST00000634810.1:n.2858C>A
ENST00000634844.1:c.3369C>A	ENSP00000489398.1:p.Asp1123Glu
NM_000053.3:c.3513C>A	NP_000044.2:p.Asp1171Glu
NM_001005918.2:c.2892C>A	NP_001005918.1:p.Asp964Glu
NM_001243182.1:c.3180C>A	NP_001230111.1:p.Asp1060Glu
XM_005266423.2:c.3417C>A	XP_005266480.1:p.Asp1139Glu
XM_005266424.3:c.3417C>A	XP_005266481.1:p.Asp1139Glu
XM_005266427.2:c.3279C>A	XP_005266484.1:p.Asp1093Glu
XM_005266428.1:c.3261C>A	XP_005266485.1:p.Asp1087Glu
XM_005266430.3:c.3513C>A	XP_005266487.1:p.Asp1171Glu
XM_005266431.2:c.3477C>A	XP_005266488.1:p.Asp1159Glu
XM_005266432.2:c.3027C>A	XP_005266489.1:p.Asp1009Glu
XM_006719837.2:c.3417C>A	XP_006719900.1:p.Asp1139Glu
XM_006719838.1:c.1329C>A	XP_006719901.1:p.Asp443Glu
XM_006719839.1:c.1146C>A	XP_006719902.1:p.Asp382Glu
XM_011535117.1:c.3417C>A	XP_011533419.1:p.Asp1139Glu
XM_011535118.1:c.3378C>A	XP_011533420.1:p.Asp1126Glu
XM_011535119.1:c.3330C>A	XP_011533421.1:p.Asp1110Glu
XM_011535120.1:c.3099C>A	XP_011533422.1:p.Asp1033Glu
XM_011535121.1:c.3000C>A	XP_011533423.1:p.Asp1000Glu
XM_011535122.1:c.2181C>A	XP_011533424.1:p.Asp727Glu
XR_941601.1:n.3732C>A
XR_941602.1:n.3732C>A
XR_941603.1:n.3732C>A
XR_941604.1:n.3732C>A
NM_001330578.1:c.3279C>A	NP_001317507.1:p.Asp1093Glu
NM_001330579.1:c.3261C>A	NP_001317508.1:p.Asp1087Glu
XM_005266424.4:c.3417C>A	XP_005266481.1:p.Asp1139Glu
XM_005266430.4:c.3513C>A	XP_005266487.1:p.Asp1171Glu
XM_005266431.4:c.3477C>A	XP_005266488.1:p.Asp1159Glu
XM_006719837.3:c.3417C>A	XP_006719900.1:p.Asp1139Glu
XM_011535117.3:c.3417C>A	XP_011533419.1:p.Asp1139Glu
XM_017020627.1:c.3417C>A	XP_016876116.1:p.Asp1139Glu
NM_000053.4:c.3513C>A MANE Select	NP_000044.2:p.Asp1171Glu
NM_001005918.3:c.2892C>A	NP_001005918.1:p.Asp964Glu
NM_001330579.2:c.3261C>A	NP_001317508.1:p.Asp1087Glu
NM_001243182.2:c.3180C>A	NP_001230111.1:p.Asp1060Glu
NM_001330578.2:c.3279C>A	NP_001317507.1:p.Asp1093Glu