Canonical Allele Identifier: CA388026360

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515276C>T (hg19) ; chr13:g.51941140C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941140C>T , CM000675.2:g.51941140C>T	GRCh38
NC_000013.10:g.52515276C>T , CM000675.1:g.52515276C>T	GRCh37
NC_000013.9:g.51413277C>T	NCBI36
NG_008806.1:g.75355G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1147G>A	ENSP00000489512.2:n.*1147G>A
ENST00000673864.2:c.*2241G>A	ENSP00000501045.2:n.*2241G>A
ENST00000674147.2:c.2876G>A	ENSP00000500964.2:p.Ser959Asn
ENST00000242839.10:c.3497G>A MANE Select	ENSP00000242839.5:p.Ser1166Asn
ENST00000344297.9:c.2876G>A	ENSP00000342559.5:p.Ser959Asn
ENST00000400366.6:c.3164G>A	ENSP00000383217.3:p.Ser1055Asn
ENST00000448424.7:c.3245G>A	ENSP00000416738.3:p.Ser1082Asn
ENST00000673772.1:c.3263G>A	ENSP00000501168.1:p.Ser1088Asn
ENST00000673867.1:n.3636G>A
ENST00000674126.1:n.3860G>A
ENST00000674147.1:c.2432G>A	ENSP00000500964.1:p.Ser811Asn
ENST00000242839.8:c.3497G>A	ENSP00000242839.4:p.Ser1166Asn
ENST00000344297.8:c.2876G>A	ENSP00000342559.5:p.Ser959Asn
ENST00000400366.5:c.3164G>A	ENSP00000383217.3:p.Ser1055Asn
ENST00000400370.8:c.2207G>A	ENSP00000383221.3:p.Ser736Asn
ENST00000418097.7:c.3302G>A	ENSP00000393343.2:p.Ser1101Asn
ENST00000448424.6:c.3263G>A	ENSP00000416738.2:p.Ser1088Asn
ENST00000634296.1:c.1275G>A
ENST00000634308.1:c.*598G>A	ENSP00000489234.1:n.*598G>A
ENST00000634620.1:n.4241G>A
ENST00000634810.1:n.2842G>A
ENST00000634844.1:c.3353G>A	ENSP00000489398.1:p.Ser1118Asn
NM_000053.3:c.3497G>A	NP_000044.2:p.Ser1166Asn
NM_001005918.2:c.2876G>A	NP_001005918.1:p.Ser959Asn
NM_001243182.1:c.3164G>A	NP_001230111.1:p.Ser1055Asn
XM_005266423.2:c.3401G>A	XP_005266480.1:p.Ser1134Asn
XM_005266424.3:c.3401G>A	XP_005266481.1:p.Ser1134Asn
XM_005266427.2:c.3263G>A	XP_005266484.1:p.Ser1088Asn
XM_005266428.1:c.3245G>A	XP_005266485.1:p.Ser1082Asn
XM_005266430.3:c.3497G>A	XP_005266487.1:p.Ser1166Asn
XM_005266431.2:c.3461G>A	XP_005266488.1:p.Ser1154Asn
XM_005266432.2:c.3011G>A	XP_005266489.1:p.Ser1004Asn
XM_006719837.2:c.3401G>A	XP_006719900.1:p.Ser1134Asn
XM_006719838.1:c.1313G>A	XP_006719901.1:p.Ser438Asn
XM_006719839.1:c.1130G>A	XP_006719902.1:p.Ser377Asn
XM_011535117.1:c.3401G>A	XP_011533419.1:p.Ser1134Asn
XM_011535118.1:c.3362G>A	XP_011533420.1:p.Ser1121Asn
XM_011535119.1:c.3314G>A	XP_011533421.1:p.Ser1105Asn
XM_011535120.1:c.3083G>A	XP_011533422.1:p.Ser1028Asn
XM_011535121.1:c.2984G>A	XP_011533423.1:p.Ser995Asn
XM_011535122.1:c.2165G>A	XP_011533424.1:p.Ser722Asn
XR_941601.1:n.3716G>A
XR_941602.1:n.3716G>A
XR_941603.1:n.3716G>A
XR_941604.1:n.3716G>A
NM_001330578.1:c.3263G>A	NP_001317507.1:p.Ser1088Asn
NM_001330579.1:c.3245G>A	NP_001317508.1:p.Ser1082Asn
XM_005266424.4:c.3401G>A	XP_005266481.1:p.Ser1134Asn
XM_005266430.4:c.3497G>A	XP_005266487.1:p.Ser1166Asn
XM_005266431.4:c.3461G>A	XP_005266488.1:p.Ser1154Asn
XM_006719837.3:c.3401G>A	XP_006719900.1:p.Ser1134Asn
XM_011535117.3:c.3401G>A	XP_011533419.1:p.Ser1134Asn
XM_017020627.1:c.3401G>A	XP_016876116.1:p.Ser1134Asn
NM_000053.4:c.3497G>A MANE Select	NP_000044.2:p.Ser1166Asn
NM_001005918.3:c.2876G>A	NP_001005918.1:p.Ser959Asn
NM_001330579.2:c.3245G>A	NP_001317508.1:p.Ser1082Asn
NM_001243182.2:c.3164G>A	NP_001230111.1:p.Ser1055Asn
NM_001330578.2:c.3263G>A	NP_001317507.1:p.Ser1088Asn