Canonical Allele Identifier: CA388026487

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515302G>T (hg19) ; chr13:g.51941166G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941166G>T , CM000675.2:g.51941166G>T	GRCh38
NC_000013.10:g.52515302G>T , CM000675.1:g.52515302G>T	GRCh37
NC_000013.9:g.51413303G>T	NCBI36
NG_008806.1:g.75329C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1121C>A	ENSP00000489512.2:n.*1121C>A
ENST00000673864.2:c.*2215C>A	ENSP00000501045.2:n.*2215C>A
ENST00000674147.2:c.2850C>A	ENSP00000500964.2:p.Asn950Lys
ENST00000242839.10:c.3471C>A MANE Select	ENSP00000242839.5:p.Asn1157Lys
ENST00000344297.9:c.2850C>A	ENSP00000342559.5:p.Asn950Lys
ENST00000400366.6:c.3138C>A	ENSP00000383217.3:p.Asn1046Lys
ENST00000448424.7:c.3219C>A	ENSP00000416738.3:p.Asn1073Lys
ENST00000673772.1:c.3237C>A	ENSP00000501168.1:p.Asn1079Lys
ENST00000673867.1:n.3610C>A
ENST00000674126.1:n.3834C>A
ENST00000674147.1:c.2406C>A	ENSP00000500964.1:p.Asn802Lys
ENST00000242839.8:c.3471C>A	ENSP00000242839.4:p.Asn1157Lys
ENST00000344297.8:c.2850C>A	ENSP00000342559.5:p.Asn950Lys
ENST00000400366.5:c.3138C>A	ENSP00000383217.3:p.Asn1046Lys
ENST00000400370.8:c.2181C>A	ENSP00000383221.3:p.Asn727Lys
ENST00000418097.7:c.3276C>A	ENSP00000393343.2:p.Asn1092Lys
ENST00000448424.6:c.3237C>A	ENSP00000416738.2:p.Asn1079Lys
ENST00000634296.1:c.1249C>A
ENST00000634308.1:c.*572C>A	ENSP00000489234.1:n.*572C>A
ENST00000634620.1:n.4215C>A
ENST00000634810.1:n.2816C>A
ENST00000634844.1:c.3327C>A	ENSP00000489398.1:p.Asn1109Lys
NM_000053.3:c.3471C>A	NP_000044.2:p.Asn1157Lys
NM_001005918.2:c.2850C>A	NP_001005918.1:p.Asn950Lys
NM_001243182.1:c.3138C>A	NP_001230111.1:p.Asn1046Lys
XM_005266423.2:c.3375C>A	XP_005266480.1:p.Asn1125Lys
XM_005266424.3:c.3375C>A	XP_005266481.1:p.Asn1125Lys
XM_005266427.2:c.3237C>A	XP_005266484.1:p.Asn1079Lys
XM_005266428.1:c.3219C>A	XP_005266485.1:p.Asn1073Lys
XM_005266430.3:c.3471C>A	XP_005266487.1:p.Asn1157Lys
XM_005266431.2:c.3435C>A	XP_005266488.1:p.Asn1145Lys
XM_005266432.2:c.2985C>A	XP_005266489.1:p.Asn995Lys
XM_006719837.2:c.3375C>A	XP_006719900.1:p.Asn1125Lys
XM_006719838.1:c.1287C>A	XP_006719901.1:p.Asn429Lys
XM_006719839.1:c.1104C>A	XP_006719902.1:p.Asn368Lys
XM_011535117.1:c.3375C>A	XP_011533419.1:p.Asn1125Lys
XM_011535118.1:c.3336C>A	XP_011533420.1:p.Asn1112Lys
XM_011535119.1:c.3288C>A	XP_011533421.1:p.Asn1096Lys
XM_011535120.1:c.3057C>A	XP_011533422.1:p.Asn1019Lys
XM_011535121.1:c.2958C>A	XP_011533423.1:p.Asn986Lys
XM_011535122.1:c.2139C>A	XP_011533424.1:p.Asn713Lys
XR_941601.1:n.3690C>A
XR_941602.1:n.3690C>A
XR_941603.1:n.3690C>A
XR_941604.1:n.3690C>A
NM_001330578.1:c.3237C>A	NP_001317507.1:p.Asn1079Lys
NM_001330579.1:c.3219C>A	NP_001317508.1:p.Asn1073Lys
XM_005266424.4:c.3375C>A	XP_005266481.1:p.Asn1125Lys
XM_005266430.4:c.3471C>A	XP_005266487.1:p.Asn1157Lys
XM_005266431.4:c.3435C>A	XP_005266488.1:p.Asn1145Lys
XM_006719837.3:c.3375C>A	XP_006719900.1:p.Asn1125Lys
XM_011535117.3:c.3375C>A	XP_011533419.1:p.Asn1125Lys
XM_017020627.1:c.3375C>A	XP_016876116.1:p.Asn1125Lys
NM_000053.4:c.3471C>A MANE Select	NP_000044.2:p.Asn1157Lys
NM_001005918.3:c.2850C>A	NP_001005918.1:p.Asn950Lys
NM_001330579.2:c.3219C>A	NP_001317508.1:p.Asn1073Lys
NM_001243182.2:c.3138C>A	NP_001230111.1:p.Asn1046Lys
NM_001330578.2:c.3237C>A	NP_001317507.1:p.Asn1079Lys