Canonical Allele Identifier: CA388021360

Gene: ATP7B

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1549T>G	ENSP00000489512.2:n.*1549T>G
ENST00000673864.2:c.*2643T>G	ENSP00000501045.2:n.*2643T>G
ENST00000674147.2:c.3278T>G	ENSP00000500964.2:p.Ile1093Ser
ENST00000242839.10:c.3899T>G MANE Select	ENSP00000242839.5:p.Ile1300Ser
ENST00000344297.9:c.3278T>G	ENSP00000342559.5:p.Ile1093Ser
ENST00000400366.6:c.3566T>G	ENSP00000383217.3:p.Ile1189Ser
ENST00000448424.7:c.3647T>G	ENSP00000416738.3:p.Ile1216Ser
ENST00000673696.1:n.1140T>G
ENST00000673772.1:c.3665T>G	ENSP00000501168.1:p.Ile1222Ser
ENST00000673867.1:n.4038T>G
ENST00000673923.1:n.765T>G
ENST00000674147.1:c.2834T>G	ENSP00000500964.1:p.Ile945Ser
ENST00000242839.8:c.3899T>G	ENSP00000242839.4:p.Ile1300Ser
ENST00000344297.8:c.3278T>G	ENSP00000342559.5:p.Ile1093Ser
ENST00000400366.5:c.3566T>G	ENSP00000383217.3:p.Ile1189Ser
ENST00000400370.8:c.2609T>G	ENSP00000383221.3:p.Ile870Ser
ENST00000418097.7:c.3704T>G	ENSP00000393343.2:p.Ile1235Ser
ENST00000448424.6:c.3665T>G	ENSP00000416738.2:p.Ile1222Ser
ENST00000634296.1:c.1677T>G
ENST00000634308.1:c.*1000T>G	ENSP00000489234.1:n.*1000T>G
ENST00000634620.1:n.4643T>G
ENST00000634810.1:n.3244T>G
ENST00000634844.1:c.3755T>G	ENSP00000489398.1:p.Ile1252Ser
NM_000053.3:c.3899T>G	NP_000044.2:p.Ile1300Ser
NM_001005918.2:c.3278T>G	NP_001005918.1:p.Ile1093Ser
NM_001243182.1:c.3566T>G	NP_001230111.1:p.Ile1189Ser
XM_005266423.2:c.3803T>G	XP_005266480.1:p.Ile1268Ser
XM_005266424.3:c.3803T>G	XP_005266481.1:p.Ile1268Ser
XM_005266427.2:c.3665T>G	XP_005266484.1:p.Ile1222Ser
XM_005266428.1:c.3647T>G	XP_005266485.1:p.Ile1216Ser
XM_005266430.3:c.3899T>G	XP_005266487.1:p.Ile1300Ser
XM_005266431.2:c.3863T>G	XP_005266488.1:p.Ile1288Ser
XM_005266432.2:c.3413T>G	XP_005266489.1:p.Ile1138Ser
XM_006719837.2:c.3803T>G	XP_006719900.1:p.Ile1268Ser
XM_006719838.1:c.1715T>G	XP_006719901.1:p.Ile572Ser
XM_006719839.1:c.1532T>G	XP_006719902.1:p.Ile511Ser
XM_011535117.1:c.3803T>G	XP_011533419.1:p.Ile1268Ser
XM_011535118.1:c.3764T>G	XP_011533420.1:p.Ile1255Ser
XM_011535119.1:c.3716T>G	XP_011533421.1:p.Ile1239Ser
XM_011535120.1:c.3485T>G	XP_011533422.1:p.Ile1162Ser
XM_011535121.1:c.3386T>G	XP_011533423.1:p.Ile1129Ser
XM_011535122.1:c.2567T>G	XP_011533424.1:p.Ile856Ser
XR_941601.1:n.4118T>G
XR_941602.1:n.4118T>G
XR_941603.1:n.4118T>G
XR_941604.1:n.4118T>G
NM_001330578.1:c.3665T>G	NP_001317507.1:p.Ile1222Ser
NM_001330579.1:c.3647T>G	NP_001317508.1:p.Ile1216Ser
XM_005266424.4:c.3803T>G	XP_005266481.1:p.Ile1268Ser
XM_005266430.4:c.3899T>G	XP_005266487.1:p.Ile1300Ser
XM_005266431.4:c.3863T>G	XP_005266488.1:p.Ile1288Ser
XM_006719837.3:c.3803T>G	XP_006719900.1:p.Ile1268Ser
XM_011535117.3:c.3803T>G	XP_011533419.1:p.Ile1268Ser
XM_017020627.1:c.3803T>G	XP_016876116.1:p.Ile1268Ser
NM_000053.4:c.3899T>G MANE Select	NP_000044.2:p.Ile1300Ser
NM_001005918.3:c.3278T>G	NP_001005918.1:p.Ile1093Ser
NM_001330579.2:c.3647T>G	NP_001317508.1:p.Ile1216Ser
NM_001243182.2:c.3566T>G	NP_001230111.1:p.Ile1189Ser
NM_001330578.2:c.3665T>G	NP_001317507.1:p.Ile1222Ser