Canonical Allele Identifier: CA388026388

Gene: ATP7B

Linked Data

• dbSNP Id: rs1957306201
• gnomAD v4: 13-51941146-T-A
• MyVariant Identifiers: chr13:g.52515282T>A (hg19) ; chr13:g.51941146T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941146T>A , CM000675.2:g.51941146T>A	GRCh38
NC_000013.10:g.52515282T>A , CM000675.1:g.52515282T>A	GRCh37
NC_000013.9:g.51413283T>A	NCBI36
NG_008806.1:g.75349A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1141A>T	ENSP00000489512.2:n.*1141A>T
ENST00000673864.2:c.*2235A>T	ENSP00000501045.2:n.*2235A>T
ENST00000674147.2:c.2870A>T	ENSP00000500964.2:p.Asp957Val
ENST00000242839.10:c.3491A>T MANE Select	ENSP00000242839.5:p.Asp1164Val
ENST00000344297.9:c.2870A>T	ENSP00000342559.5:p.Asp957Val
ENST00000400366.6:c.3158A>T	ENSP00000383217.3:p.Asp1053Val
ENST00000448424.7:c.3239A>T	ENSP00000416738.3:p.Asp1080Val
ENST00000673772.1:c.3257A>T	ENSP00000501168.1:p.Asp1086Val
ENST00000673867.1:n.3630A>T
ENST00000674126.1:n.3854A>T
ENST00000674147.1:c.2426A>T	ENSP00000500964.1:p.Asp809Val
ENST00000242839.8:c.3491A>T	ENSP00000242839.4:p.Asp1164Val
ENST00000344297.8:c.2870A>T	ENSP00000342559.5:p.Asp957Val
ENST00000400366.5:c.3158A>T	ENSP00000383217.3:p.Asp1053Val
ENST00000400370.8:c.2201A>T	ENSP00000383221.3:p.Asp734Val
ENST00000418097.7:c.3296A>T	ENSP00000393343.2:p.Asp1099Val
ENST00000448424.6:c.3257A>T	ENSP00000416738.2:p.Asp1086Val
ENST00000634296.1:c.1269A>T
ENST00000634308.1:c.*592A>T	ENSP00000489234.1:n.*592A>T
ENST00000634620.1:n.4235A>T
ENST00000634810.1:n.2836A>T
ENST00000634844.1:c.3347A>T	ENSP00000489398.1:p.Asp1116Val
NM_000053.3:c.3491A>T	NP_000044.2:p.Asp1164Val
NM_001005918.2:c.2870A>T	NP_001005918.1:p.Asp957Val
NM_001243182.1:c.3158A>T	NP_001230111.1:p.Asp1053Val
XM_005266423.2:c.3395A>T	XP_005266480.1:p.Asp1132Val
XM_005266424.3:c.3395A>T	XP_005266481.1:p.Asp1132Val
XM_005266427.2:c.3257A>T	XP_005266484.1:p.Asp1086Val
XM_005266428.1:c.3239A>T	XP_005266485.1:p.Asp1080Val
XM_005266430.3:c.3491A>T	XP_005266487.1:p.Asp1164Val
XM_005266431.2:c.3455A>T	XP_005266488.1:p.Asp1152Val
XM_005266432.2:c.3005A>T	XP_005266489.1:p.Asp1002Val
XM_006719837.2:c.3395A>T	XP_006719900.1:p.Asp1132Val
XM_006719838.1:c.1307A>T	XP_006719901.1:p.Asp436Val
XM_006719839.1:c.1124A>T	XP_006719902.1:p.Asp375Val
XM_011535117.1:c.3395A>T	XP_011533419.1:p.Asp1132Val
XM_011535118.1:c.3356A>T	XP_011533420.1:p.Asp1119Val
XM_011535119.1:c.3308A>T	XP_011533421.1:p.Asp1103Val
XM_011535120.1:c.3077A>T	XP_011533422.1:p.Asp1026Val
XM_011535121.1:c.2978A>T	XP_011533423.1:p.Asp993Val
XM_011535122.1:c.2159A>T	XP_011533424.1:p.Asp720Val
XR_941601.1:n.3710A>T
XR_941602.1:n.3710A>T
XR_941603.1:n.3710A>T
XR_941604.1:n.3710A>T
NM_001330578.1:c.3257A>T	NP_001317507.1:p.Asp1086Val
NM_001330579.1:c.3239A>T	NP_001317508.1:p.Asp1080Val
XM_005266424.4:c.3395A>T	XP_005266481.1:p.Asp1132Val
XM_005266430.4:c.3491A>T	XP_005266487.1:p.Asp1164Val
XM_005266431.4:c.3455A>T	XP_005266488.1:p.Asp1152Val
XM_006719837.3:c.3395A>T	XP_006719900.1:p.Asp1132Val
XM_011535117.3:c.3395A>T	XP_011533419.1:p.Asp1132Val
XM_017020627.1:c.3395A>T	XP_016876116.1:p.Asp1132Val
NM_000053.4:c.3491A>T MANE Select	NP_000044.2:p.Asp1164Val
NM_001005918.3:c.2870A>T	NP_001005918.1:p.Asp957Val
NM_001330579.2:c.3239A>T	NP_001317508.1:p.Asp1080Val
NM_001243182.2:c.3158A>T	NP_001230111.1:p.Asp1053Val
NM_001330578.2:c.3257A>T	NP_001317507.1:p.Asp1086Val