Canonical Allele Identifier: CA388021365

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511616A>T (hg19) ; chr13:g.51937480A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937480A>T , CM000675.2:g.51937480A>T	GRCh38
NC_000013.10:g.52511616A>T , CM000675.1:g.52511616A>T	GRCh37
NC_000013.9:g.51409617A>T	NCBI36
NG_008806.1:g.79015T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1549T>A	ENSP00000489512.2:n.*1549T>A
ENST00000673864.2:c.*2643T>A	ENSP00000501045.2:n.*2643T>A
ENST00000674147.2:c.3278T>A	ENSP00000500964.2:p.Ile1093Asn
ENST00000242839.10:c.3899T>A MANE Select	ENSP00000242839.5:p.Ile1300Asn
ENST00000344297.9:c.3278T>A	ENSP00000342559.5:p.Ile1093Asn
ENST00000400366.6:c.3566T>A	ENSP00000383217.3:p.Ile1189Asn
ENST00000448424.7:c.3647T>A	ENSP00000416738.3:p.Ile1216Asn
ENST00000673696.1:n.1140T>A
ENST00000673772.1:c.3665T>A	ENSP00000501168.1:p.Ile1222Asn
ENST00000673867.1:n.4038T>A
ENST00000673923.1:n.765T>A
ENST00000674147.1:c.2834T>A	ENSP00000500964.1:p.Ile945Asn
ENST00000242839.8:c.3899T>A	ENSP00000242839.4:p.Ile1300Asn
ENST00000344297.8:c.3278T>A	ENSP00000342559.5:p.Ile1093Asn
ENST00000400366.5:c.3566T>A	ENSP00000383217.3:p.Ile1189Asn
ENST00000400370.8:c.2609T>A	ENSP00000383221.3:p.Ile870Asn
ENST00000418097.7:c.3704T>A	ENSP00000393343.2:p.Ile1235Asn
ENST00000448424.6:c.3665T>A	ENSP00000416738.2:p.Ile1222Asn
ENST00000634296.1:c.1677T>A
ENST00000634308.1:c.*1000T>A	ENSP00000489234.1:n.*1000T>A
ENST00000634620.1:n.4643T>A
ENST00000634810.1:n.3244T>A
ENST00000634844.1:c.3755T>A	ENSP00000489398.1:p.Ile1252Asn
NM_000053.3:c.3899T>A	NP_000044.2:p.Ile1300Asn
NM_001005918.2:c.3278T>A	NP_001005918.1:p.Ile1093Asn
NM_001243182.1:c.3566T>A	NP_001230111.1:p.Ile1189Asn
XM_005266423.2:c.3803T>A	XP_005266480.1:p.Ile1268Asn
XM_005266424.3:c.3803T>A	XP_005266481.1:p.Ile1268Asn
XM_005266427.2:c.3665T>A	XP_005266484.1:p.Ile1222Asn
XM_005266428.1:c.3647T>A	XP_005266485.1:p.Ile1216Asn
XM_005266430.3:c.3899T>A	XP_005266487.1:p.Ile1300Asn
XM_005266431.2:c.3863T>A	XP_005266488.1:p.Ile1288Asn
XM_005266432.2:c.3413T>A	XP_005266489.1:p.Ile1138Asn
XM_006719837.2:c.3803T>A	XP_006719900.1:p.Ile1268Asn
XM_006719838.1:c.1715T>A	XP_006719901.1:p.Ile572Asn
XM_006719839.1:c.1532T>A	XP_006719902.1:p.Ile511Asn
XM_011535117.1:c.3803T>A	XP_011533419.1:p.Ile1268Asn
XM_011535118.1:c.3764T>A	XP_011533420.1:p.Ile1255Asn
XM_011535119.1:c.3716T>A	XP_011533421.1:p.Ile1239Asn
XM_011535120.1:c.3485T>A	XP_011533422.1:p.Ile1162Asn
XM_011535121.1:c.3386T>A	XP_011533423.1:p.Ile1129Asn
XM_011535122.1:c.2567T>A	XP_011533424.1:p.Ile856Asn
XR_941601.1:n.4118T>A
XR_941602.1:n.4118T>A
XR_941603.1:n.4118T>A
XR_941604.1:n.4118T>A
NM_001330578.1:c.3665T>A	NP_001317507.1:p.Ile1222Asn
NM_001330579.1:c.3647T>A	NP_001317508.1:p.Ile1216Asn
XM_005266424.4:c.3803T>A	XP_005266481.1:p.Ile1268Asn
XM_005266430.4:c.3899T>A	XP_005266487.1:p.Ile1300Asn
XM_005266431.4:c.3863T>A	XP_005266488.1:p.Ile1288Asn
XM_006719837.3:c.3803T>A	XP_006719900.1:p.Ile1268Asn
XM_011535117.3:c.3803T>A	XP_011533419.1:p.Ile1268Asn
XM_017020627.1:c.3803T>A	XP_016876116.1:p.Ile1268Asn
NM_000053.4:c.3899T>A MANE Select	NP_000044.2:p.Ile1300Asn
NM_001005918.3:c.3278T>A	NP_001005918.1:p.Ile1093Asn
NM_001330579.2:c.3647T>A	NP_001317508.1:p.Ile1216Asn
NM_001243182.2:c.3566T>A	NP_001230111.1:p.Ile1189Asn
NM_001330578.2:c.3665T>A	NP_001317507.1:p.Ile1222Asn