Canonical Allele Identifier: CA388021232

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511519A>C (hg19) ; chr13:g.51937383A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937383A>C , CM000675.2:g.51937383A>C	GRCh38
NC_000013.10:g.52511519A>C , CM000675.1:g.52511519A>C	GRCh37
NC_000013.9:g.51409520A>C	NCBI36
NG_008806.1:g.79112T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1564T>G	ENSP00000489512.2:n.*1564T>G
ENST00000673864.2:c.*2658T>G	ENSP00000501045.2:n.*2658T>G
ENST00000674147.2:c.3293T>G	ENSP00000500964.2:p.Leu1098Arg
ENST00000242839.10:c.3914T>G MANE Select	ENSP00000242839.5:p.Leu1305Arg
ENST00000344297.9:c.3293T>G	ENSP00000342559.5:p.Leu1098Arg
ENST00000400366.6:c.3581T>G	ENSP00000383217.3:p.Leu1194Arg
ENST00000448424.7:c.3662T>G	ENSP00000416738.3:p.Leu1221Arg
ENST00000673696.1:n.1237T>G
ENST00000673772.1:c.3680T>G	ENSP00000501168.1:p.Leu1227Arg
ENST00000673867.1:n.4053T>G
ENST00000673923.1:n.780T>G
ENST00000674147.1:c.2849T>G	ENSP00000500964.1:p.Leu950Arg
ENST00000242839.8:c.3914T>G	ENSP00000242839.4:p.Leu1305Arg
ENST00000344297.8:c.3293T>G	ENSP00000342559.5:p.Leu1098Arg
ENST00000400366.5:c.3581T>G	ENSP00000383217.3:p.Leu1194Arg
ENST00000400370.8:c.2624T>G	ENSP00000383221.3:p.Leu875Arg
ENST00000418097.7:c.3719T>G	ENSP00000393343.2:p.Leu1240Arg
ENST00000448424.6:c.3680T>G	ENSP00000416738.2:p.Leu1227Arg
ENST00000634296.1:c.1692T>G
ENST00000634308.1:c.*1015T>G	ENSP00000489234.1:n.*1015T>G
ENST00000634620.1:n.4658T>G
ENST00000634810.1:n.3259T>G
ENST00000634844.1:c.3770T>G	ENSP00000489398.1:p.Leu1257Arg
NM_000053.3:c.3914T>G	NP_000044.2:p.Leu1305Arg
NM_001005918.2:c.3293T>G	NP_001005918.1:p.Leu1098Arg
NM_001243182.1:c.3581T>G	NP_001230111.1:p.Leu1194Arg
XM_005266423.2:c.3818T>G	XP_005266480.1:p.Leu1273Arg
XM_005266424.3:c.3818T>G	XP_005266481.1:p.Leu1273Arg
XM_005266427.2:c.3680T>G	XP_005266484.1:p.Leu1227Arg
XM_005266428.1:c.3662T>G	XP_005266485.1:p.Leu1221Arg
XM_005266430.3:c.3914T>G	XP_005266487.1:p.Leu1305Arg
XM_005266431.2:c.3878T>G	XP_005266488.1:p.Leu1293Arg
XM_005266432.2:c.3428T>G	XP_005266489.1:p.Leu1143Arg
XM_006719837.2:c.3818T>G	XP_006719900.1:p.Leu1273Arg
XM_006719838.1:c.1730T>G	XP_006719901.1:p.Leu577Arg
XM_006719839.1:c.1547T>G	XP_006719902.1:p.Leu516Arg
XM_011535117.1:c.3818T>G	XP_011533419.1:p.Leu1273Arg
XM_011535118.1:c.3779T>G	XP_011533420.1:p.Leu1260Arg
XM_011535119.1:c.3731T>G	XP_011533421.1:p.Leu1244Arg
XM_011535120.1:c.3500T>G	XP_011533422.1:p.Leu1167Arg
XM_011535121.1:c.3401T>G	XP_011533423.1:p.Leu1134Arg
XM_011535122.1:c.2582T>G	XP_011533424.1:p.Leu861Arg
XR_941601.1:n.4133T>G
XR_941602.1:n.4133T>G
XR_941603.1:n.4133T>G
XR_941604.1:n.4133T>G
NM_001330578.1:c.3680T>G	NP_001317507.1:p.Leu1227Arg
NM_001330579.1:c.3662T>G	NP_001317508.1:p.Leu1221Arg
XM_005266424.4:c.3818T>G	XP_005266481.1:p.Leu1273Arg
XM_005266430.4:c.3914T>G	XP_005266487.1:p.Leu1305Arg
XM_005266431.4:c.3878T>G	XP_005266488.1:p.Leu1293Arg
XM_006719837.3:c.3818T>G	XP_006719900.1:p.Leu1273Arg
XM_011535117.3:c.3818T>G	XP_011533419.1:p.Leu1273Arg
XM_017020627.1:c.3818T>G	XP_016876116.1:p.Leu1273Arg
NM_000053.4:c.3914T>G MANE Select	NP_000044.2:p.Leu1305Arg
NM_001005918.3:c.3293T>G	NP_001005918.1:p.Leu1098Arg
NM_001330579.2:c.3662T>G	NP_001317508.1:p.Leu1221Arg
NM_001243182.2:c.3581T>G	NP_001230111.1:p.Leu1194Arg
NM_001330578.2:c.3680T>G	NP_001317507.1:p.Leu1227Arg