Canonical Allele Identifier: CA483893464

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511431A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937295A>C , CM000675.2:g.51937295A>C	GRCh38
NC_000013.10:g.52511431A>C , CM000675.1:g.52511431A>C	GRCh37
NC_000013.9:g.51409432A>C	NCBI36
NG_008806.1:g.79200T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1652T>G	ENSP00000489512.2:n.*1652T>G
ENST00000673864.2:c.*2746T>G	ENSP00000501045.2:n.*2746T>G
ENST00000674147.2:c.3381T>G	ENSP00000500964.2:p.Val1127=
ENST00000242839.10:c.4002T>G MANE Select	ENSP00000242839.5:p.Val1334=
ENST00000344297.9:c.3381T>G	ENSP00000342559.5:p.Val1127=
ENST00000400366.6:c.3669T>G	ENSP00000383217.3:p.Val1223=
ENST00000448424.7:c.3750T>G	ENSP00000416738.3:p.Val1250=
ENST00000673696.1:n.1325T>G
ENST00000673772.1:c.3768T>G	ENSP00000501168.1:p.Val1256=
ENST00000673867.1:n.4141T>G
ENST00000673923.1:n.868T>G
ENST00000674147.1:c.2937T>G	ENSP00000500964.1:p.Val979=
ENST00000242839.8:c.4002T>G	ENSP00000242839.4:p.Val1334=
ENST00000344297.8:c.3381T>G	ENSP00000342559.5:p.Val1127=
ENST00000400366.5:c.3669T>G	ENSP00000383217.3:p.Val1223=
ENST00000400370.8:c.2712T>G	ENSP00000383221.3:p.Val904=
ENST00000418097.7:c.3807T>G	ENSP00000393343.2:p.Val1269=
ENST00000448424.6:c.3768T>G	ENSP00000416738.2:p.Val1256=
ENST00000634296.1:c.1780T>G
ENST00000634308.1:c.*1103T>G	ENSP00000489234.1:n.*1103T>G
ENST00000634620.1:n.4746T>G
ENST00000634810.1:n.3347T>G
ENST00000634844.1:c.3858T>G	ENSP00000489398.1:p.Val1286=
NM_000053.3:c.4002T>G	NP_000044.2:p.Val1334=
NM_001005918.2:c.3381T>G	NP_001005918.1:p.Val1127=
NM_001243182.1:c.3669T>G	NP_001230111.1:p.Val1223=
XM_005266423.2:c.3906T>G	XP_005266480.1:p.Val1302=
XM_005266424.3:c.3906T>G	XP_005266481.1:p.Val1302=
XM_005266427.2:c.3768T>G	XP_005266484.1:p.Val1256=
XM_005266428.1:c.3750T>G	XP_005266485.1:p.Val1250=
XM_005266430.3:c.4002T>G	XP_005266487.1:p.Val1334=
XM_005266431.2:c.3966T>G	XP_005266488.1:p.Val1322=
XM_005266432.2:c.3516T>G	XP_005266489.1:p.Val1172=
XM_006719837.2:c.3906T>G	XP_006719900.1:p.Val1302=
XM_006719838.1:c.1818T>G	XP_006719901.1:p.Val606=
XM_006719839.1:c.1635T>G	XP_006719902.1:p.Val545=
XM_011535117.1:c.3906T>G	XP_011533419.1:p.Val1302=
XM_011535118.1:c.3867T>G	XP_011533420.1:p.Val1289=
XM_011535119.1:c.3819T>G	XP_011533421.1:p.Val1273=
XM_011535120.1:c.3588T>G	XP_011533422.1:p.Val1196=
XM_011535121.1:c.3489T>G	XP_011533423.1:p.Val1163=
XM_011535122.1:c.2670T>G	XP_011533424.1:p.Val890=
XR_941601.1:n.4221T>G
XR_941602.1:n.4221T>G
XR_941603.1:n.4221T>G
XR_941604.1:n.4221T>G
NM_001330578.1:c.3768T>G	NP_001317507.1:p.Val1256=
NM_001330579.1:c.3750T>G	NP_001317508.1:p.Val1250=
XM_005266424.4:c.3906T>G	XP_005266481.1:p.Val1302=
XM_005266430.4:c.4002T>G	XP_005266487.1:p.Val1334=
XM_005266431.4:c.3966T>G	XP_005266488.1:p.Val1322=
XM_006719837.3:c.3906T>G	XP_006719900.1:p.Val1302=
XM_011535117.3:c.3906T>G	XP_011533419.1:p.Val1302=
XM_017020627.1:c.3906T>G	XP_016876116.1:p.Val1302=
NM_000053.4:c.4002T>G MANE Select	NP_000044.2:p.Val1334=
NM_001005918.3:c.3381T>G	NP_001005918.1:p.Val1127=
NM_001330579.2:c.3750T>G	NP_001317508.1:p.Val1250=
NM_001243182.2:c.3669T>G	NP_001230111.1:p.Val1223=
NM_001330578.2:c.3768T>G	NP_001317507.1:p.Val1256=