Canonical Allele Identifier: CA250075132

Gene: ATP7B

Linked Data

• dbSNP Id: rs61957448
• MyVariant Identifiers: chr13:g.52513261G>T (hg19) ; chr13:g.51939125G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939125G>T , CM000675.2:g.51939125G>T	GRCh38
NC_000013.10:g.52513261G>T , CM000675.1:g.52513261G>T	GRCh37
NC_000013.9:g.51411262G>T	NCBI36
NG_008806.1:g.77370C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1275C>A	ENSP00000489512.2:n.*1275C>A
ENST00000673864.2:c.*2369C>A	ENSP00000501045.2:n.*2369C>A
ENST00000674147.2:c.3004C>A	ENSP00000500964.2:p.Leu1002Met
ENST00000242839.10:c.3625C>A MANE Select	ENSP00000242839.5:p.Leu1209Met
ENST00000344297.9:c.3004C>A	ENSP00000342559.5:p.Leu1002Met
ENST00000400366.6:c.3292C>A	ENSP00000383217.3:p.Leu1098Met
ENST00000448424.7:c.3373C>A	ENSP00000416738.3:p.Leu1125Met
ENST00000673696.1:n.866C>A
ENST00000673772.1:c.3391C>A	ENSP00000501168.1:p.Leu1131Met
ENST00000673867.1:n.3764C>A
ENST00000673923.1:n.491C>A
ENST00000674147.1:c.2560C>A	ENSP00000500964.1:p.Leu854Met
ENST00000242839.8:c.3625C>A	ENSP00000242839.4:p.Leu1209Met
ENST00000344297.8:c.3004C>A	ENSP00000342559.5:p.Leu1002Met
ENST00000400366.5:c.3292C>A	ENSP00000383217.3:p.Leu1098Met
ENST00000400370.8:c.2335C>A	ENSP00000383221.3:p.Leu779Met
ENST00000418097.7:c.3430C>A	ENSP00000393343.2:p.Leu1144Met
ENST00000448424.6:c.3391C>A	ENSP00000416738.2:p.Leu1131Met
ENST00000634296.1:c.1403C>A
ENST00000634308.1:c.*726C>A	ENSP00000489234.1:n.*726C>A
ENST00000634620.1:n.4369C>A
ENST00000634810.1:n.2970C>A
ENST00000634844.1:c.3481C>A	ENSP00000489398.1:p.Leu1161Met
NM_000053.3:c.3625C>A	NP_000044.2:p.Leu1209Met
NM_001005918.2:c.3004C>A	NP_001005918.1:p.Leu1002Met
NM_001243182.1:c.3292C>A	NP_001230111.1:p.Leu1098Met
XM_005266423.2:c.3529C>A	XP_005266480.1:p.Leu1177Met
XM_005266424.3:c.3529C>A	XP_005266481.1:p.Leu1177Met
XM_005266427.2:c.3391C>A	XP_005266484.1:p.Leu1131Met
XM_005266428.1:c.3373C>A	XP_005266485.1:p.Leu1125Met
XM_005266430.3:c.3625C>A	XP_005266487.1:p.Leu1209Met
XM_005266431.2:c.3589C>A	XP_005266488.1:p.Leu1197Met
XM_005266432.2:c.3139C>A	XP_005266489.1:p.Leu1047Met
XM_006719837.2:c.3529C>A	XP_006719900.1:p.Leu1177Met
XM_006719838.1:c.1441C>A	XP_006719901.1:p.Leu481Met
XM_006719839.1:c.1258C>A	XP_006719902.1:p.Leu420Met
XM_011535117.1:c.3529C>A	XP_011533419.1:p.Leu1177Met
XM_011535118.1:c.3490C>A	XP_011533420.1:p.Leu1164Met
XM_011535119.1:c.3442C>A	XP_011533421.1:p.Leu1148Met
XM_011535120.1:c.3211C>A	XP_011533422.1:p.Leu1071Met
XM_011535121.1:c.3112C>A	XP_011533423.1:p.Leu1038Met
XM_011535122.1:c.2293C>A	XP_011533424.1:p.Leu765Met
XR_941601.1:n.3844C>A
XR_941602.1:n.3844C>A
XR_941603.1:n.3844C>A
XR_941604.1:n.3844C>A
NM_001330578.1:c.3391C>A	NP_001317507.1:p.Leu1131Met
NM_001330579.1:c.3373C>A	NP_001317508.1:p.Leu1125Met
XM_005266424.4:c.3529C>A	XP_005266481.1:p.Leu1177Met
XM_005266430.4:c.3625C>A	XP_005266487.1:p.Leu1209Met
XM_005266431.4:c.3589C>A	XP_005266488.1:p.Leu1197Met
XM_006719837.3:c.3529C>A	XP_006719900.1:p.Leu1177Met
XM_011535117.3:c.3529C>A	XP_011533419.1:p.Leu1177Met
XM_017020627.1:c.3529C>A	XP_016876116.1:p.Leu1177Met
NM_000053.4:c.3625C>A MANE Select	NP_000044.2:p.Leu1209Met
NM_001005918.3:c.3004C>A	NP_001005918.1:p.Leu1002Met
NM_001330579.2:c.3373C>A	NP_001317508.1:p.Leu1125Met
NM_001243182.2:c.3292C>A	NP_001230111.1:p.Leu1098Met
NM_001330578.2:c.3391C>A	NP_001317507.1:p.Leu1131Met