Canonical Allele Identifier: CA483893460

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511425T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937289T>G , CM000675.2:g.51937289T>G	GRCh38
NC_000013.10:g.52511425T>G , CM000675.1:g.52511425T>G	GRCh37
NC_000013.9:g.51409426T>G	NCBI36
NG_008806.1:g.79206A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1658A>C	ENSP00000489512.2:n.*1658A>C
ENST00000673864.2:c.*2752A>C	ENSP00000501045.2:n.*2752A>C
ENST00000674147.2:c.3387A>C	ENSP00000500964.2:p.Ile1129=
ENST00000242839.10:c.4008A>C MANE Select	ENSP00000242839.5:p.Ile1336=
ENST00000344297.9:c.3387A>C	ENSP00000342559.5:p.Ile1129=
ENST00000400366.6:c.3675A>C	ENSP00000383217.3:p.Ile1225=
ENST00000448424.7:c.3756A>C	ENSP00000416738.3:p.Ile1252=
ENST00000673696.1:n.1331A>C
ENST00000673772.1:c.3774A>C	ENSP00000501168.1:p.Ile1258=
ENST00000673867.1:n.4147A>C
ENST00000673923.1:n.874A>C
ENST00000674147.1:c.2943A>C	ENSP00000500964.1:p.Ile981=
ENST00000242839.8:c.4008A>C	ENSP00000242839.4:p.Ile1336=
ENST00000344297.8:c.3387A>C	ENSP00000342559.5:p.Ile1129=
ENST00000400366.5:c.3675A>C	ENSP00000383217.3:p.Ile1225=
ENST00000400370.8:c.2718A>C	ENSP00000383221.3:p.Ile906=
ENST00000418097.7:c.3813A>C	ENSP00000393343.2:p.Ile1271=
ENST00000448424.6:c.3774A>C	ENSP00000416738.2:p.Ile1258=
ENST00000634296.1:c.1786A>C
ENST00000634308.1:c.*1109A>C	ENSP00000489234.1:n.*1109A>C
ENST00000634620.1:n.4752A>C
ENST00000634810.1:n.3353A>C
ENST00000634844.1:c.3864A>C	ENSP00000489398.1:p.Ile1288=
NM_000053.3:c.4008A>C	NP_000044.2:p.Ile1336=
NM_001005918.2:c.3387A>C	NP_001005918.1:p.Ile1129=
NM_001243182.1:c.3675A>C	NP_001230111.1:p.Ile1225=
XM_005266423.2:c.3912A>C	XP_005266480.1:p.Ile1304=
XM_005266424.3:c.3912A>C	XP_005266481.1:p.Ile1304=
XM_005266427.2:c.3774A>C	XP_005266484.1:p.Ile1258=
XM_005266428.1:c.3756A>C	XP_005266485.1:p.Ile1252=
XM_005266430.3:c.4008A>C	XP_005266487.1:p.Ile1336=
XM_005266431.2:c.3972A>C	XP_005266488.1:p.Ile1324=
XM_005266432.2:c.3522A>C	XP_005266489.1:p.Ile1174=
XM_006719837.2:c.3912A>C	XP_006719900.1:p.Ile1304=
XM_006719838.1:c.1824A>C	XP_006719901.1:p.Ile608=
XM_006719839.1:c.1641A>C	XP_006719902.1:p.Ile547=
XM_011535117.1:c.3912A>C	XP_011533419.1:p.Ile1304=
XM_011535118.1:c.3873A>C	XP_011533420.1:p.Ile1291=
XM_011535119.1:c.3825A>C	XP_011533421.1:p.Ile1275=
XM_011535120.1:c.3594A>C	XP_011533422.1:p.Ile1198=
XM_011535121.1:c.3495A>C	XP_011533423.1:p.Ile1165=
XM_011535122.1:c.2676A>C	XP_011533424.1:p.Ile892=
XR_941601.1:n.4227A>C
XR_941602.1:n.4227A>C
XR_941603.1:n.4227A>C
XR_941604.1:n.4227A>C
NM_001330578.1:c.3774A>C	NP_001317507.1:p.Ile1258=
NM_001330579.1:c.3756A>C	NP_001317508.1:p.Ile1252=
XM_005266424.4:c.3912A>C	XP_005266481.1:p.Ile1304=
XM_005266430.4:c.4008A>C	XP_005266487.1:p.Ile1336=
XM_005266431.4:c.3972A>C	XP_005266488.1:p.Ile1324=
XM_006719837.3:c.3912A>C	XP_006719900.1:p.Ile1304=
XM_011535117.3:c.3912A>C	XP_011533419.1:p.Ile1304=
XM_017020627.1:c.3912A>C	XP_016876116.1:p.Ile1304=
NM_000053.4:c.4008A>C MANE Select	NP_000044.2:p.Ile1336=
NM_001005918.3:c.3387A>C	NP_001005918.1:p.Ile1129=
NM_001330579.2:c.3756A>C	NP_001317508.1:p.Ile1252=
NM_001243182.2:c.3675A>C	NP_001230111.1:p.Ile1225=
NM_001330578.2:c.3774A>C	NP_001317507.1:p.Ile1258=