Canonical Allele Identifier: CA388026708

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515334G>T (hg19) ; chr13:g.51941198G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941198G>T , CM000675.2:g.51941198G>T	GRCh38
NC_000013.10:g.52515334G>T , CM000675.1:g.52515334G>T	GRCh37
NC_000013.9:g.51413335G>T	NCBI36
NG_008806.1:g.75297C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1089C>A	ENSP00000489512.2:n.*1089C>A
ENST00000673864.2:c.*2183C>A	ENSP00000501045.2:n.*2183C>A
ENST00000674147.2:c.2818C>A	ENSP00000500964.2:p.Leu940Met
ENST00000242839.10:c.3439C>A MANE Select	ENSP00000242839.5:p.Leu1147Met
ENST00000344297.9:c.2818C>A	ENSP00000342559.5:p.Leu940Met
ENST00000400366.6:c.3106C>A	ENSP00000383217.3:p.Leu1036Met
ENST00000448424.7:c.3187C>A	ENSP00000416738.3:p.Leu1063Met
ENST00000673772.1:c.3205C>A	ENSP00000501168.1:p.Leu1069Met
ENST00000673867.1:n.3578C>A
ENST00000674126.1:n.3802C>A
ENST00000674147.1:c.2374C>A	ENSP00000500964.1:p.Leu792Met
ENST00000242839.8:c.3439C>A	ENSP00000242839.4:p.Leu1147Met
ENST00000344297.8:c.2818C>A	ENSP00000342559.5:p.Leu940Met
ENST00000400366.5:c.3106C>A	ENSP00000383217.3:p.Leu1036Met
ENST00000400370.8:c.2149C>A	ENSP00000383221.3:p.Leu717Met
ENST00000418097.7:c.3244C>A	ENSP00000393343.2:p.Leu1082Met
ENST00000448424.6:c.3205C>A	ENSP00000416738.2:p.Leu1069Met
ENST00000634296.1:c.1217C>A
ENST00000634308.1:c.*540C>A	ENSP00000489234.1:n.*540C>A
ENST00000634620.1:n.4183C>A
ENST00000634810.1:n.2784C>A
ENST00000634844.1:c.3295C>A	ENSP00000489398.1:p.Leu1099Met
NM_000053.3:c.3439C>A	NP_000044.2:p.Leu1147Met
NM_001005918.2:c.2818C>A	NP_001005918.1:p.Leu940Met
NM_001243182.1:c.3106C>A	NP_001230111.1:p.Leu1036Met
XM_005266423.2:c.3343C>A	XP_005266480.1:p.Leu1115Met
XM_005266424.3:c.3343C>A	XP_005266481.1:p.Leu1115Met
XM_005266427.2:c.3205C>A	XP_005266484.1:p.Leu1069Met
XM_005266428.1:c.3187C>A	XP_005266485.1:p.Leu1063Met
XM_005266430.3:c.3439C>A	XP_005266487.1:p.Leu1147Met
XM_005266431.2:c.3403C>A	XP_005266488.1:p.Leu1135Met
XM_005266432.2:c.2953C>A	XP_005266489.1:p.Leu985Met
XM_006719837.2:c.3343C>A	XP_006719900.1:p.Leu1115Met
XM_006719838.1:c.1255C>A	XP_006719901.1:p.Leu419Met
XM_006719839.1:c.1072C>A	XP_006719902.1:p.Leu358Met
XM_011535117.1:c.3343C>A	XP_011533419.1:p.Leu1115Met
XM_011535118.1:c.3304C>A	XP_011533420.1:p.Leu1102Met
XM_011535119.1:c.3256C>A	XP_011533421.1:p.Leu1086Met
XM_011535120.1:c.3025C>A	XP_011533422.1:p.Leu1009Met
XM_011535121.1:c.2926C>A	XP_011533423.1:p.Leu976Met
XM_011535122.1:c.2107C>A	XP_011533424.1:p.Leu703Met
XR_941601.1:n.3658C>A
XR_941602.1:n.3658C>A
XR_941603.1:n.3658C>A
XR_941604.1:n.3658C>A
NM_001330578.1:c.3205C>A	NP_001317507.1:p.Leu1069Met
NM_001330579.1:c.3187C>A	NP_001317508.1:p.Leu1063Met
XM_005266424.4:c.3343C>A	XP_005266481.1:p.Leu1115Met
XM_005266430.4:c.3439C>A	XP_005266487.1:p.Leu1147Met
XM_005266431.4:c.3403C>A	XP_005266488.1:p.Leu1135Met
XM_006719837.3:c.3343C>A	XP_006719900.1:p.Leu1115Met
XM_011535117.3:c.3343C>A	XP_011533419.1:p.Leu1115Met
XM_017020627.1:c.3343C>A	XP_016876116.1:p.Leu1115Met
NM_000053.4:c.3439C>A MANE Select	NP_000044.2:p.Leu1147Met
NM_001005918.3:c.2818C>A	NP_001005918.1:p.Leu940Met
NM_001330579.2:c.3187C>A	NP_001317508.1:p.Leu1063Met
NM_001243182.2:c.3106C>A	NP_001230111.1:p.Leu1036Met
NM_001330578.2:c.3205C>A	NP_001317507.1:p.Leu1069Met