Canonical Allele Identifier: CA483893769

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513259C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939123C>G , CM000675.2:g.51939123C>G	GRCh38
NC_000013.10:g.52513259C>G , CM000675.1:g.52513259C>G	GRCh37
NC_000013.9:g.51411260C>G	NCBI36
NG_008806.1:g.77372G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1277G>C	ENSP00000489512.2:n.*1277G>C
ENST00000673864.2:c.*2371G>C	ENSP00000501045.2:n.*2371G>C
ENST00000674147.2:c.3006G>C	ENSP00000500964.2:p.Leu1002=
ENST00000242839.10:c.3627G>C MANE Select	ENSP00000242839.5:p.Leu1209=
ENST00000344297.9:c.3006G>C	ENSP00000342559.5:p.Leu1002=
ENST00000400366.6:c.3294G>C	ENSP00000383217.3:p.Leu1098=
ENST00000448424.7:c.3375G>C	ENSP00000416738.3:p.Leu1125=
ENST00000673696.1:n.868G>C
ENST00000673772.1:c.3393G>C	ENSP00000501168.1:p.Leu1131=
ENST00000673867.1:n.3766G>C
ENST00000673923.1:n.493G>C
ENST00000674147.1:c.2562G>C	ENSP00000500964.1:p.Leu854=
ENST00000242839.8:c.3627G>C	ENSP00000242839.4:p.Leu1209=
ENST00000344297.8:c.3006G>C	ENSP00000342559.5:p.Leu1002=
ENST00000400366.5:c.3294G>C	ENSP00000383217.3:p.Leu1098=
ENST00000400370.8:c.2337G>C	ENSP00000383221.3:p.Leu779=
ENST00000418097.7:c.3432G>C	ENSP00000393343.2:p.Leu1144=
ENST00000448424.6:c.3393G>C	ENSP00000416738.2:p.Leu1131=
ENST00000634296.1:c.1405G>C
ENST00000634308.1:c.*728G>C	ENSP00000489234.1:n.*728G>C
ENST00000634620.1:n.4371G>C
ENST00000634810.1:n.2972G>C
ENST00000634844.1:c.3483G>C	ENSP00000489398.1:p.Leu1161=
NM_000053.3:c.3627G>C	NP_000044.2:p.Leu1209=
NM_001005918.2:c.3006G>C	NP_001005918.1:p.Leu1002=
NM_001243182.1:c.3294G>C	NP_001230111.1:p.Leu1098=
XM_005266423.2:c.3531G>C	XP_005266480.1:p.Leu1177=
XM_005266424.3:c.3531G>C	XP_005266481.1:p.Leu1177=
XM_005266427.2:c.3393G>C	XP_005266484.1:p.Leu1131=
XM_005266428.1:c.3375G>C	XP_005266485.1:p.Leu1125=
XM_005266430.3:c.3627G>C	XP_005266487.1:p.Leu1209=
XM_005266431.2:c.3591G>C	XP_005266488.1:p.Leu1197=
XM_005266432.2:c.3141G>C	XP_005266489.1:p.Leu1047=
XM_006719837.2:c.3531G>C	XP_006719900.1:p.Leu1177=
XM_006719838.1:c.1443G>C	XP_006719901.1:p.Leu481=
XM_006719839.1:c.1260G>C	XP_006719902.1:p.Leu420=
XM_011535117.1:c.3531G>C	XP_011533419.1:p.Leu1177=
XM_011535118.1:c.3492G>C	XP_011533420.1:p.Leu1164=
XM_011535119.1:c.3444G>C	XP_011533421.1:p.Leu1148=
XM_011535120.1:c.3213G>C	XP_011533422.1:p.Leu1071=
XM_011535121.1:c.3114G>C	XP_011533423.1:p.Leu1038=
XM_011535122.1:c.2295G>C	XP_011533424.1:p.Leu765=
XR_941601.1:n.3846G>C
XR_941602.1:n.3846G>C
XR_941603.1:n.3846G>C
XR_941604.1:n.3846G>C
NM_001330578.1:c.3393G>C	NP_001317507.1:p.Leu1131=
NM_001330579.1:c.3375G>C	NP_001317508.1:p.Leu1125=
XM_005266424.4:c.3531G>C	XP_005266481.1:p.Leu1177=
XM_005266430.4:c.3627G>C	XP_005266487.1:p.Leu1209=
XM_005266431.4:c.3591G>C	XP_005266488.1:p.Leu1197=
XM_006719837.3:c.3531G>C	XP_006719900.1:p.Leu1177=
XM_011535117.3:c.3531G>C	XP_011533419.1:p.Leu1177=
XM_017020627.1:c.3531G>C	XP_016876116.1:p.Leu1177=
NM_000053.4:c.3627G>C MANE Select	NP_000044.2:p.Leu1209=
NM_001005918.3:c.3006G>C	NP_001005918.1:p.Leu1002=
NM_001330579.2:c.3375G>C	NP_001317508.1:p.Leu1125=
NM_001243182.2:c.3294G>C	NP_001230111.1:p.Leu1098=
NM_001330578.2:c.3393G>C	NP_001317507.1:p.Leu1131=