Canonical Allele Identifier: CA388024825

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513323A>C (hg19) ; chr13:g.51939187A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939187A>C , CM000675.2:g.51939187A>C	GRCh38
NC_000013.10:g.52513323A>C , CM000675.1:g.52513323A>C	GRCh37
NC_000013.9:g.51411324A>C	NCBI36
NG_008806.1:g.77308T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1213T>G	ENSP00000489512.2:n.*1213T>G
ENST00000673864.2:c.*2307T>G	ENSP00000501045.2:n.*2307T>G
ENST00000674147.2:c.2942T>G	ENSP00000500964.2:p.Leu981Arg
ENST00000242839.10:c.3563T>G MANE Select	ENSP00000242839.5:p.Leu1188Arg
ENST00000344297.9:c.2942T>G	ENSP00000342559.5:p.Leu981Arg
ENST00000400366.6:c.3230T>G	ENSP00000383217.3:p.Leu1077Arg
ENST00000448424.7:c.3311T>G	ENSP00000416738.3:p.Leu1104Arg
ENST00000673696.1:n.804T>G
ENST00000673772.1:c.3329T>G	ENSP00000501168.1:p.Leu1110Arg
ENST00000673867.1:n.3702T>G
ENST00000673923.1:n.429T>G
ENST00000674147.1:c.2498T>G	ENSP00000500964.1:p.Leu833Arg
ENST00000242839.8:c.3563T>G	ENSP00000242839.4:p.Leu1188Arg
ENST00000344297.8:c.2942T>G	ENSP00000342559.5:p.Leu981Arg
ENST00000400366.5:c.3230T>G	ENSP00000383217.3:p.Leu1077Arg
ENST00000400370.8:c.2273T>G	ENSP00000383221.3:p.Leu758Arg
ENST00000418097.7:c.3368T>G	ENSP00000393343.2:p.Leu1123Arg
ENST00000448424.6:c.3329T>G	ENSP00000416738.2:p.Leu1110Arg
ENST00000634296.1:c.1341T>G
ENST00000634308.1:c.*664T>G	ENSP00000489234.1:n.*664T>G
ENST00000634620.1:n.4307T>G
ENST00000634810.1:n.2908T>G
ENST00000634844.1:c.3419T>G	ENSP00000489398.1:p.Leu1140Arg
NM_000053.3:c.3563T>G	NP_000044.2:p.Leu1188Arg
NM_001005918.2:c.2942T>G	NP_001005918.1:p.Leu981Arg
NM_001243182.1:c.3230T>G	NP_001230111.1:p.Leu1077Arg
XM_005266423.2:c.3467T>G	XP_005266480.1:p.Leu1156Arg
XM_005266424.3:c.3467T>G	XP_005266481.1:p.Leu1156Arg
XM_005266427.2:c.3329T>G	XP_005266484.1:p.Leu1110Arg
XM_005266428.1:c.3311T>G	XP_005266485.1:p.Leu1104Arg
XM_005266430.3:c.3563T>G	XP_005266487.1:p.Leu1188Arg
XM_005266431.2:c.3527T>G	XP_005266488.1:p.Leu1176Arg
XM_005266432.2:c.3077T>G	XP_005266489.1:p.Leu1026Arg
XM_006719837.2:c.3467T>G	XP_006719900.1:p.Leu1156Arg
XM_006719838.1:c.1379T>G	XP_006719901.1:p.Leu460Arg
XM_006719839.1:c.1196T>G	XP_006719902.1:p.Leu399Arg
XM_011535117.1:c.3467T>G	XP_011533419.1:p.Leu1156Arg
XM_011535118.1:c.3428T>G	XP_011533420.1:p.Leu1143Arg
XM_011535119.1:c.3380T>G	XP_011533421.1:p.Leu1127Arg
XM_011535120.1:c.3149T>G	XP_011533422.1:p.Leu1050Arg
XM_011535121.1:c.3050T>G	XP_011533423.1:p.Leu1017Arg
XM_011535122.1:c.2231T>G	XP_011533424.1:p.Leu744Arg
XR_941601.1:n.3782T>G
XR_941602.1:n.3782T>G
XR_941603.1:n.3782T>G
XR_941604.1:n.3782T>G
NM_001330578.1:c.3329T>G	NP_001317507.1:p.Leu1110Arg
NM_001330579.1:c.3311T>G	NP_001317508.1:p.Leu1104Arg
XM_005266424.4:c.3467T>G	XP_005266481.1:p.Leu1156Arg
XM_005266430.4:c.3563T>G	XP_005266487.1:p.Leu1188Arg
XM_005266431.4:c.3527T>G	XP_005266488.1:p.Leu1176Arg
XM_006719837.3:c.3467T>G	XP_006719900.1:p.Leu1156Arg
XM_011535117.3:c.3467T>G	XP_011533419.1:p.Leu1156Arg
XM_017020627.1:c.3467T>G	XP_016876116.1:p.Leu1156Arg
NM_000053.4:c.3563T>G MANE Select	NP_000044.2:p.Leu1188Arg
NM_001005918.3:c.2942T>G	NP_001005918.1:p.Leu981Arg
NM_001330579.2:c.3311T>G	NP_001317508.1:p.Leu1104Arg
NM_001243182.2:c.3230T>G	NP_001230111.1:p.Leu1077Arg
NM_001330578.2:c.3329T>G	NP_001317507.1:p.Leu1110Arg