Canonical Allele Identifier: CA388026323

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515273T>A (hg19) ; chr13:g.51941137T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941137T>A , CM000675.2:g.51941137T>A	GRCh38
NC_000013.10:g.52515273T>A , CM000675.1:g.52515273T>A	GRCh37
NC_000013.9:g.51413274T>A	NCBI36
NG_008806.1:g.75358A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1150A>T	ENSP00000489512.2:n.*1150A>T
ENST00000673864.2:c.*2244A>T	ENSP00000501045.2:n.*2244A>T
ENST00000674147.2:c.2879A>T	ENSP00000500964.2:p.Asp960Val
ENST00000242839.10:c.3500A>T MANE Select	ENSP00000242839.5:p.Asp1167Val
ENST00000344297.9:c.2879A>T	ENSP00000342559.5:p.Asp960Val
ENST00000400366.6:c.3167A>T	ENSP00000383217.3:p.Asp1056Val
ENST00000448424.7:c.3248A>T	ENSP00000416738.3:p.Asp1083Val
ENST00000673772.1:c.3266A>T	ENSP00000501168.1:p.Asp1089Val
ENST00000673867.1:n.3639A>T
ENST00000674126.1:n.3863A>T
ENST00000674147.1:c.2435A>T	ENSP00000500964.1:p.Asp812Val
ENST00000242839.8:c.3500A>T	ENSP00000242839.4:p.Asp1167Val
ENST00000344297.8:c.2879A>T	ENSP00000342559.5:p.Asp960Val
ENST00000400366.5:c.3167A>T	ENSP00000383217.3:p.Asp1056Val
ENST00000400370.8:c.2210A>T	ENSP00000383221.3:p.Asp737Val
ENST00000418097.7:c.3305A>T	ENSP00000393343.2:p.Asp1102Val
ENST00000448424.6:c.3266A>T	ENSP00000416738.2:p.Asp1089Val
ENST00000634296.1:c.1278A>T
ENST00000634308.1:c.*601A>T	ENSP00000489234.1:n.*601A>T
ENST00000634620.1:n.4244A>T
ENST00000634810.1:n.2845A>T
ENST00000634844.1:c.3356A>T	ENSP00000489398.1:p.Asp1119Val
NM_000053.3:c.3500A>T	NP_000044.2:p.Asp1167Val
NM_001005918.2:c.2879A>T	NP_001005918.1:p.Asp960Val
NM_001243182.1:c.3167A>T	NP_001230111.1:p.Asp1056Val
XM_005266423.2:c.3404A>T	XP_005266480.1:p.Asp1135Val
XM_005266424.3:c.3404A>T	XP_005266481.1:p.Asp1135Val
XM_005266427.2:c.3266A>T	XP_005266484.1:p.Asp1089Val
XM_005266428.1:c.3248A>T	XP_005266485.1:p.Asp1083Val
XM_005266430.3:c.3500A>T	XP_005266487.1:p.Asp1167Val
XM_005266431.2:c.3464A>T	XP_005266488.1:p.Asp1155Val
XM_005266432.2:c.3014A>T	XP_005266489.1:p.Asp1005Val
XM_006719837.2:c.3404A>T	XP_006719900.1:p.Asp1135Val
XM_006719838.1:c.1316A>T	XP_006719901.1:p.Asp439Val
XM_006719839.1:c.1133A>T	XP_006719902.1:p.Asp378Val
XM_011535117.1:c.3404A>T	XP_011533419.1:p.Asp1135Val
XM_011535118.1:c.3365A>T	XP_011533420.1:p.Asp1122Val
XM_011535119.1:c.3317A>T	XP_011533421.1:p.Asp1106Val
XM_011535120.1:c.3086A>T	XP_011533422.1:p.Asp1029Val
XM_011535121.1:c.2987A>T	XP_011533423.1:p.Asp996Val
XM_011535122.1:c.2168A>T	XP_011533424.1:p.Asp723Val
XR_941601.1:n.3719A>T
XR_941602.1:n.3719A>T
XR_941603.1:n.3719A>T
XR_941604.1:n.3719A>T
NM_001330578.1:c.3266A>T	NP_001317507.1:p.Asp1089Val
NM_001330579.1:c.3248A>T	NP_001317508.1:p.Asp1083Val
XM_005266424.4:c.3404A>T	XP_005266481.1:p.Asp1135Val
XM_005266430.4:c.3500A>T	XP_005266487.1:p.Asp1167Val
XM_005266431.4:c.3464A>T	XP_005266488.1:p.Asp1155Val
XM_006719837.3:c.3404A>T	XP_006719900.1:p.Asp1135Val
XM_011535117.3:c.3404A>T	XP_011533419.1:p.Asp1135Val
XM_017020627.1:c.3404A>T	XP_016876116.1:p.Asp1135Val
NM_000053.4:c.3500A>T MANE Select	NP_000044.2:p.Asp1167Val
NM_001005918.3:c.2879A>T	NP_001005918.1:p.Asp960Val
NM_001330579.2:c.3248A>T	NP_001317508.1:p.Asp1083Val
NM_001243182.2:c.3167A>T	NP_001230111.1:p.Asp1056Val
NM_001330578.2:c.3266A>T	NP_001317507.1:p.Asp1089Val