Canonical Allele Identifier: CA484024273

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511618A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937482A>G , CM000675.2:g.51937482A>G	GRCh38
NC_000013.10:g.52511618A>G , CM000675.1:g.52511618A>G	GRCh37
NC_000013.9:g.51409619A>G	NCBI36
NG_008806.1:g.79013T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1547T>C	ENSP00000489512.2:n.*1547T>C
ENST00000673864.2:c.*2641T>C	ENSP00000501045.2:n.*2641T>C
ENST00000674147.2:c.3276T>C	ENSP00000500964.2:p.Leu1092=
ENST00000242839.10:c.3897T>C MANE Select	ENSP00000242839.5:p.Leu1299=
ENST00000344297.9:c.3276T>C	ENSP00000342559.5:p.Leu1092=
ENST00000400366.6:c.3564T>C	ENSP00000383217.3:p.Leu1188=
ENST00000448424.7:c.3645T>C	ENSP00000416738.3:p.Leu1215=
ENST00000673696.1:n.1138T>C
ENST00000673772.1:c.3663T>C	ENSP00000501168.1:p.Leu1221=
ENST00000673867.1:n.4036T>C
ENST00000673923.1:n.763T>C
ENST00000674147.1:c.2832T>C	ENSP00000500964.1:p.Leu944=
ENST00000242839.8:c.3897T>C	ENSP00000242839.4:p.Leu1299=
ENST00000344297.8:c.3276T>C	ENSP00000342559.5:p.Leu1092=
ENST00000400366.5:c.3564T>C	ENSP00000383217.3:p.Leu1188=
ENST00000400370.8:c.2607T>C	ENSP00000383221.3:p.Leu869=
ENST00000418097.7:c.3702T>C	ENSP00000393343.2:p.Leu1234=
ENST00000448424.6:c.3663T>C	ENSP00000416738.2:p.Leu1221=
ENST00000634296.1:c.1675T>C
ENST00000634308.1:c.*998T>C	ENSP00000489234.1:n.*998T>C
ENST00000634620.1:n.4641T>C
ENST00000634810.1:n.3242T>C
ENST00000634844.1:c.3753T>C	ENSP00000489398.1:p.Leu1251=
NM_000053.3:c.3897T>C	NP_000044.2:p.Leu1299=
NM_001005918.2:c.3276T>C	NP_001005918.1:p.Leu1092=
NM_001243182.1:c.3564T>C	NP_001230111.1:p.Leu1188=
XM_005266423.2:c.3801T>C	XP_005266480.1:p.Leu1267=
XM_005266424.3:c.3801T>C	XP_005266481.1:p.Leu1267=
XM_005266427.2:c.3663T>C	XP_005266484.1:p.Leu1221=
XM_005266428.1:c.3645T>C	XP_005266485.1:p.Leu1215=
XM_005266430.3:c.3897T>C	XP_005266487.1:p.Leu1299=
XM_005266431.2:c.3861T>C	XP_005266488.1:p.Leu1287=
XM_005266432.2:c.3411T>C	XP_005266489.1:p.Leu1137=
XM_006719837.2:c.3801T>C	XP_006719900.1:p.Leu1267=
XM_006719838.1:c.1713T>C	XP_006719901.1:p.Leu571=
XM_006719839.1:c.1530T>C	XP_006719902.1:p.Leu510=
XM_011535117.1:c.3801T>C	XP_011533419.1:p.Leu1267=
XM_011535118.1:c.3762T>C	XP_011533420.1:p.Leu1254=
XM_011535119.1:c.3714T>C	XP_011533421.1:p.Leu1238=
XM_011535120.1:c.3483T>C	XP_011533422.1:p.Leu1161=
XM_011535121.1:c.3384T>C	XP_011533423.1:p.Leu1128=
XM_011535122.1:c.2565T>C	XP_011533424.1:p.Leu855=
XR_941601.1:n.4116T>C
XR_941602.1:n.4116T>C
XR_941603.1:n.4116T>C
XR_941604.1:n.4116T>C
NM_001330578.1:c.3663T>C	NP_001317507.1:p.Leu1221=
NM_001330579.1:c.3645T>C	NP_001317508.1:p.Leu1215=
XM_005266424.4:c.3801T>C	XP_005266481.1:p.Leu1267=
XM_005266430.4:c.3897T>C	XP_005266487.1:p.Leu1299=
XM_005266431.4:c.3861T>C	XP_005266488.1:p.Leu1287=
XM_006719837.3:c.3801T>C	XP_006719900.1:p.Leu1267=
XM_011535117.3:c.3801T>C	XP_011533419.1:p.Leu1267=
XM_017020627.1:c.3801T>C	XP_016876116.1:p.Leu1267=
NM_000053.4:c.3897T>C MANE Select	NP_000044.2:p.Leu1299=
NM_001005918.3:c.3276T>C	NP_001005918.1:p.Leu1092=
NM_001330579.2:c.3645T>C	NP_001317508.1:p.Leu1215=
NM_001243182.2:c.3564T>C	NP_001230111.1:p.Leu1188=
NM_001330578.2:c.3663T>C	NP_001317507.1:p.Leu1221=