Canonical Allele Identifier: CA388026552

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515312A>C (hg19) ; chr13:g.51941176A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941176A>C , CM000675.2:g.51941176A>C	GRCh38
NC_000013.10:g.52515312A>C , CM000675.1:g.52515312A>C	GRCh37
NC_000013.9:g.51413313A>C	NCBI36
NG_008806.1:g.75319T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1111T>G	ENSP00000489512.2:n.*1111T>G
ENST00000673864.2:c.*2205T>G	ENSP00000501045.2:n.*2205T>G
ENST00000674147.2:c.2840T>G	ENSP00000500964.2:p.Leu947Arg
ENST00000242839.10:c.3461T>G MANE Select	ENSP00000242839.5:p.Leu1154Arg
ENST00000344297.9:c.2840T>G	ENSP00000342559.5:p.Leu947Arg
ENST00000400366.6:c.3128T>G	ENSP00000383217.3:p.Leu1043Arg
ENST00000448424.7:c.3209T>G	ENSP00000416738.3:p.Leu1070Arg
ENST00000673772.1:c.3227T>G	ENSP00000501168.1:p.Leu1076Arg
ENST00000673867.1:n.3600T>G
ENST00000674126.1:n.3824T>G
ENST00000674147.1:c.2396T>G	ENSP00000500964.1:p.Leu799Arg
ENST00000242839.8:c.3461T>G	ENSP00000242839.4:p.Leu1154Arg
ENST00000344297.8:c.2840T>G	ENSP00000342559.5:p.Leu947Arg
ENST00000400366.5:c.3128T>G	ENSP00000383217.3:p.Leu1043Arg
ENST00000400370.8:c.2171T>G	ENSP00000383221.3:p.Leu724Arg
ENST00000418097.7:c.3266T>G	ENSP00000393343.2:p.Leu1089Arg
ENST00000448424.6:c.3227T>G	ENSP00000416738.2:p.Leu1076Arg
ENST00000634296.1:c.1239T>G
ENST00000634308.1:c.*562T>G	ENSP00000489234.1:n.*562T>G
ENST00000634620.1:n.4205T>G
ENST00000634810.1:n.2806T>G
ENST00000634844.1:c.3317T>G	ENSP00000489398.1:p.Leu1106Arg
NM_000053.3:c.3461T>G	NP_000044.2:p.Leu1154Arg
NM_001005918.2:c.2840T>G	NP_001005918.1:p.Leu947Arg
NM_001243182.1:c.3128T>G	NP_001230111.1:p.Leu1043Arg
XM_005266423.2:c.3365T>G	XP_005266480.1:p.Leu1122Arg
XM_005266424.3:c.3365T>G	XP_005266481.1:p.Leu1122Arg
XM_005266427.2:c.3227T>G	XP_005266484.1:p.Leu1076Arg
XM_005266428.1:c.3209T>G	XP_005266485.1:p.Leu1070Arg
XM_005266430.3:c.3461T>G	XP_005266487.1:p.Leu1154Arg
XM_005266431.2:c.3425T>G	XP_005266488.1:p.Leu1142Arg
XM_005266432.2:c.2975T>G	XP_005266489.1:p.Leu992Arg
XM_006719837.2:c.3365T>G	XP_006719900.1:p.Leu1122Arg
XM_006719838.1:c.1277T>G	XP_006719901.1:p.Leu426Arg
XM_006719839.1:c.1094T>G	XP_006719902.1:p.Leu365Arg
XM_011535117.1:c.3365T>G	XP_011533419.1:p.Leu1122Arg
XM_011535118.1:c.3326T>G	XP_011533420.1:p.Leu1109Arg
XM_011535119.1:c.3278T>G	XP_011533421.1:p.Leu1093Arg
XM_011535120.1:c.3047T>G	XP_011533422.1:p.Leu1016Arg
XM_011535121.1:c.2948T>G	XP_011533423.1:p.Leu983Arg
XM_011535122.1:c.2129T>G	XP_011533424.1:p.Leu710Arg
XR_941601.1:n.3680T>G
XR_941602.1:n.3680T>G
XR_941603.1:n.3680T>G
XR_941604.1:n.3680T>G
NM_001330578.1:c.3227T>G	NP_001317507.1:p.Leu1076Arg
NM_001330579.1:c.3209T>G	NP_001317508.1:p.Leu1070Arg
XM_005266424.4:c.3365T>G	XP_005266481.1:p.Leu1122Arg
XM_005266430.4:c.3461T>G	XP_005266487.1:p.Leu1154Arg
XM_005266431.4:c.3425T>G	XP_005266488.1:p.Leu1142Arg
XM_006719837.3:c.3365T>G	XP_006719900.1:p.Leu1122Arg
XM_011535117.3:c.3365T>G	XP_011533419.1:p.Leu1122Arg
XM_017020627.1:c.3365T>G	XP_016876116.1:p.Leu1122Arg
NM_000053.4:c.3461T>G MANE Select	NP_000044.2:p.Leu1154Arg
NM_001005918.3:c.2840T>G	NP_001005918.1:p.Leu947Arg
NM_001330579.2:c.3209T>G	NP_001317508.1:p.Leu1070Arg
NM_001243182.2:c.3128T>G	NP_001230111.1:p.Leu1043Arg
NM_001330578.2:c.3227T>G	NP_001317507.1:p.Leu1076Arg