Canonical Allele Identifier: CA388026562

Gene: ATP7B

Linked Data

• dbSNP Id: rs1330620114
• gnomAD v4: 13-51941178-C-A
• MyVariant Identifiers: chr13:g.52515314C>A (hg19) ; chr13:g.51941178C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941178C>A , CM000675.2:g.51941178C>A	GRCh38
NC_000013.10:g.52515314C>A , CM000675.1:g.52515314C>A	GRCh37
NC_000013.9:g.51413315C>A	NCBI36
NG_008806.1:g.75317G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1109G>T	ENSP00000489512.2:n.*1109G>T
ENST00000673864.2:c.*2203G>T	ENSP00000501045.2:n.*2203G>T
ENST00000674147.2:c.2838G>T	ENSP00000500964.2:p.Trp946Cys
ENST00000242839.10:c.3459G>T MANE Select	ENSP00000242839.5:p.Trp1153Cys
ENST00000344297.9:c.2838G>T	ENSP00000342559.5:p.Trp946Cys
ENST00000400366.6:c.3126G>T	ENSP00000383217.3:p.Trp1042Cys
ENST00000448424.7:c.3207G>T	ENSP00000416738.3:p.Trp1069Cys
ENST00000673772.1:c.3225G>T	ENSP00000501168.1:p.Trp1075Cys
ENST00000673867.1:n.3598G>T
ENST00000674126.1:n.3822G>T
ENST00000674147.1:c.2394G>T	ENSP00000500964.1:p.Trp798Cys
ENST00000242839.8:c.3459G>T	ENSP00000242839.4:p.Trp1153Cys
ENST00000344297.8:c.2838G>T	ENSP00000342559.5:p.Trp946Cys
ENST00000400366.5:c.3126G>T	ENSP00000383217.3:p.Trp1042Cys
ENST00000400370.8:c.2169G>T	ENSP00000383221.3:p.Trp723Cys
ENST00000418097.7:c.3264G>T	ENSP00000393343.2:p.Trp1088Cys
ENST00000448424.6:c.3225G>T	ENSP00000416738.2:p.Trp1075Cys
ENST00000634296.1:c.1237G>T
ENST00000634308.1:c.*560G>T	ENSP00000489234.1:n.*560G>T
ENST00000634620.1:n.4203G>T
ENST00000634810.1:n.2804G>T
ENST00000634844.1:c.3315G>T	ENSP00000489398.1:p.Trp1105Cys
NM_000053.3:c.3459G>T	NP_000044.2:p.Trp1153Cys
NM_001005918.2:c.2838G>T	NP_001005918.1:p.Trp946Cys
NM_001243182.1:c.3126G>T	NP_001230111.1:p.Trp1042Cys
XM_005266423.2:c.3363G>T	XP_005266480.1:p.Trp1121Cys
XM_005266424.3:c.3363G>T	XP_005266481.1:p.Trp1121Cys
XM_005266427.2:c.3225G>T	XP_005266484.1:p.Trp1075Cys
XM_005266428.1:c.3207G>T	XP_005266485.1:p.Trp1069Cys
XM_005266430.3:c.3459G>T	XP_005266487.1:p.Trp1153Cys
XM_005266431.2:c.3423G>T	XP_005266488.1:p.Trp1141Cys
XM_005266432.2:c.2973G>T	XP_005266489.1:p.Trp991Cys
XM_006719837.2:c.3363G>T	XP_006719900.1:p.Trp1121Cys
XM_006719838.1:c.1275G>T	XP_006719901.1:p.Trp425Cys
XM_006719839.1:c.1092G>T	XP_006719902.1:p.Trp364Cys
XM_011535117.1:c.3363G>T	XP_011533419.1:p.Trp1121Cys
XM_011535118.1:c.3324G>T	XP_011533420.1:p.Trp1108Cys
XM_011535119.1:c.3276G>T	XP_011533421.1:p.Trp1092Cys
XM_011535120.1:c.3045G>T	XP_011533422.1:p.Trp1015Cys
XM_011535121.1:c.2946G>T	XP_011533423.1:p.Trp982Cys
XM_011535122.1:c.2127G>T	XP_011533424.1:p.Trp709Cys
XR_941601.1:n.3678G>T
XR_941602.1:n.3678G>T
XR_941603.1:n.3678G>T
XR_941604.1:n.3678G>T
NM_001330578.1:c.3225G>T	NP_001317507.1:p.Trp1075Cys
NM_001330579.1:c.3207G>T	NP_001317508.1:p.Trp1069Cys
XM_005266424.4:c.3363G>T	XP_005266481.1:p.Trp1121Cys
XM_005266430.4:c.3459G>T	XP_005266487.1:p.Trp1153Cys
XM_005266431.4:c.3423G>T	XP_005266488.1:p.Trp1141Cys
XM_006719837.3:c.3363G>T	XP_006719900.1:p.Trp1121Cys
XM_011535117.3:c.3363G>T	XP_011533419.1:p.Trp1121Cys
XM_017020627.1:c.3363G>T	XP_016876116.1:p.Trp1121Cys
NM_000053.4:c.3459G>T MANE Select	NP_000044.2:p.Trp1153Cys
NM_001005918.3:c.2838G>T	NP_001005918.1:p.Trp946Cys
NM_001330579.2:c.3207G>T	NP_001317508.1:p.Trp1069Cys
NM_001243182.2:c.3126G>T	NP_001230111.1:p.Trp1042Cys
NM_001330578.2:c.3225G>T	NP_001317507.1:p.Trp1075Cys