Canonical Allele Identifier: CA388026558

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515313G>T (hg19) ; chr13:g.51941177G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941177G>T , CM000675.2:g.51941177G>T	GRCh38
NC_000013.10:g.52515313G>T , CM000675.1:g.52515313G>T	GRCh37
NC_000013.9:g.51413314G>T	NCBI36
NG_008806.1:g.75318C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1110C>A	ENSP00000489512.2:n.*1110C>A
ENST00000673864.2:c.*2204C>A	ENSP00000501045.2:n.*2204C>A
ENST00000674147.2:c.2839C>A	ENSP00000500964.2:p.Leu947Met
ENST00000242839.10:c.3460C>A MANE Select	ENSP00000242839.5:p.Leu1154Met
ENST00000344297.9:c.2839C>A	ENSP00000342559.5:p.Leu947Met
ENST00000400366.6:c.3127C>A	ENSP00000383217.3:p.Leu1043Met
ENST00000448424.7:c.3208C>A	ENSP00000416738.3:p.Leu1070Met
ENST00000673772.1:c.3226C>A	ENSP00000501168.1:p.Leu1076Met
ENST00000673867.1:n.3599C>A
ENST00000674126.1:n.3823C>A
ENST00000674147.1:c.2395C>A	ENSP00000500964.1:p.Leu799Met
ENST00000242839.8:c.3460C>A	ENSP00000242839.4:p.Leu1154Met
ENST00000344297.8:c.2839C>A	ENSP00000342559.5:p.Leu947Met
ENST00000400366.5:c.3127C>A	ENSP00000383217.3:p.Leu1043Met
ENST00000400370.8:c.2170C>A	ENSP00000383221.3:p.Leu724Met
ENST00000418097.7:c.3265C>A	ENSP00000393343.2:p.Leu1089Met
ENST00000448424.6:c.3226C>A	ENSP00000416738.2:p.Leu1076Met
ENST00000634296.1:c.1238C>A
ENST00000634308.1:c.*561C>A	ENSP00000489234.1:n.*561C>A
ENST00000634620.1:n.4204C>A
ENST00000634810.1:n.2805C>A
ENST00000634844.1:c.3316C>A	ENSP00000489398.1:p.Leu1106Met
NM_000053.3:c.3460C>A	NP_000044.2:p.Leu1154Met
NM_001005918.2:c.2839C>A	NP_001005918.1:p.Leu947Met
NM_001243182.1:c.3127C>A	NP_001230111.1:p.Leu1043Met
XM_005266423.2:c.3364C>A	XP_005266480.1:p.Leu1122Met
XM_005266424.3:c.3364C>A	XP_005266481.1:p.Leu1122Met
XM_005266427.2:c.3226C>A	XP_005266484.1:p.Leu1076Met
XM_005266428.1:c.3208C>A	XP_005266485.1:p.Leu1070Met
XM_005266430.3:c.3460C>A	XP_005266487.1:p.Leu1154Met
XM_005266431.2:c.3424C>A	XP_005266488.1:p.Leu1142Met
XM_005266432.2:c.2974C>A	XP_005266489.1:p.Leu992Met
XM_006719837.2:c.3364C>A	XP_006719900.1:p.Leu1122Met
XM_006719838.1:c.1276C>A	XP_006719901.1:p.Leu426Met
XM_006719839.1:c.1093C>A	XP_006719902.1:p.Leu365Met
XM_011535117.1:c.3364C>A	XP_011533419.1:p.Leu1122Met
XM_011535118.1:c.3325C>A	XP_011533420.1:p.Leu1109Met
XM_011535119.1:c.3277C>A	XP_011533421.1:p.Leu1093Met
XM_011535120.1:c.3046C>A	XP_011533422.1:p.Leu1016Met
XM_011535121.1:c.2947C>A	XP_011533423.1:p.Leu983Met
XM_011535122.1:c.2128C>A	XP_011533424.1:p.Leu710Met
XR_941601.1:n.3679C>A
XR_941602.1:n.3679C>A
XR_941603.1:n.3679C>A
XR_941604.1:n.3679C>A
NM_001330578.1:c.3226C>A	NP_001317507.1:p.Leu1076Met
NM_001330579.1:c.3208C>A	NP_001317508.1:p.Leu1070Met
XM_005266424.4:c.3364C>A	XP_005266481.1:p.Leu1122Met
XM_005266430.4:c.3460C>A	XP_005266487.1:p.Leu1154Met
XM_005266431.4:c.3424C>A	XP_005266488.1:p.Leu1142Met
XM_006719837.3:c.3364C>A	XP_006719900.1:p.Leu1122Met
XM_011535117.3:c.3364C>A	XP_011533419.1:p.Leu1122Met
XM_017020627.1:c.3364C>A	XP_016876116.1:p.Leu1122Met
NM_000053.4:c.3460C>A MANE Select	NP_000044.2:p.Leu1154Met
NM_001005918.3:c.2839C>A	NP_001005918.1:p.Leu947Met
NM_001330579.2:c.3208C>A	NP_001317508.1:p.Leu1070Met
NM_001243182.2:c.3127C>A	NP_001230111.1:p.Leu1043Met
NM_001330578.2:c.3226C>A	NP_001317507.1:p.Leu1076Met