Canonical Allele Identifier: CA483893478

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511449T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937313T>A , CM000675.2:g.51937313T>A	GRCh38
NC_000013.10:g.52511449T>A , CM000675.1:g.52511449T>A	GRCh37
NC_000013.9:g.51409450T>A	NCBI36
NG_008806.1:g.79182A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1634A>T	ENSP00000489512.2:n.*1634A>T
ENST00000673864.2:c.*2728A>T	ENSP00000501045.2:n.*2728A>T
ENST00000674147.2:c.3363A>T	ENSP00000500964.2:p.Ala1121=
ENST00000242839.10:c.3984A>T MANE Select	ENSP00000242839.5:p.Ala1328=
ENST00000344297.9:c.3363A>T	ENSP00000342559.5:p.Ala1121=
ENST00000400366.6:c.3651A>T	ENSP00000383217.3:p.Ala1217=
ENST00000448424.7:c.3732A>T	ENSP00000416738.3:p.Ala1244=
ENST00000673696.1:n.1307A>T
ENST00000673772.1:c.3750A>T	ENSP00000501168.1:p.Ala1250=
ENST00000673867.1:n.4123A>T
ENST00000673923.1:n.850A>T
ENST00000674147.1:c.2919A>T	ENSP00000500964.1:p.Ala973=
ENST00000242839.8:c.3984A>T	ENSP00000242839.4:p.Ala1328=
ENST00000344297.8:c.3363A>T	ENSP00000342559.5:p.Ala1121=
ENST00000400366.5:c.3651A>T	ENSP00000383217.3:p.Ala1217=
ENST00000400370.8:c.2694A>T	ENSP00000383221.3:p.Ala898=
ENST00000418097.7:c.3789A>T	ENSP00000393343.2:p.Ala1263=
ENST00000448424.6:c.3750A>T	ENSP00000416738.2:p.Ala1250=
ENST00000634296.1:c.1762A>T
ENST00000634308.1:c.*1085A>T	ENSP00000489234.1:n.*1085A>T
ENST00000634620.1:n.4728A>T
ENST00000634810.1:n.3329A>T
ENST00000634844.1:c.3840A>T	ENSP00000489398.1:p.Ala1280=
NM_000053.3:c.3984A>T	NP_000044.2:p.Ala1328=
NM_001005918.2:c.3363A>T	NP_001005918.1:p.Ala1121=
NM_001243182.1:c.3651A>T	NP_001230111.1:p.Ala1217=
XM_005266423.2:c.3888A>T	XP_005266480.1:p.Ala1296=
XM_005266424.3:c.3888A>T	XP_005266481.1:p.Ala1296=
XM_005266427.2:c.3750A>T	XP_005266484.1:p.Ala1250=
XM_005266428.1:c.3732A>T	XP_005266485.1:p.Ala1244=
XM_005266430.3:c.3984A>T	XP_005266487.1:p.Ala1328=
XM_005266431.2:c.3948A>T	XP_005266488.1:p.Ala1316=
XM_005266432.2:c.3498A>T	XP_005266489.1:p.Ala1166=
XM_006719837.2:c.3888A>T	XP_006719900.1:p.Ala1296=
XM_006719838.1:c.1800A>T	XP_006719901.1:p.Ala600=
XM_006719839.1:c.1617A>T	XP_006719902.1:p.Ala539=
XM_011535117.1:c.3888A>T	XP_011533419.1:p.Ala1296=
XM_011535118.1:c.3849A>T	XP_011533420.1:p.Ala1283=
XM_011535119.1:c.3801A>T	XP_011533421.1:p.Ala1267=
XM_011535120.1:c.3570A>T	XP_011533422.1:p.Ala1190=
XM_011535121.1:c.3471A>T	XP_011533423.1:p.Ala1157=
XM_011535122.1:c.2652A>T	XP_011533424.1:p.Ala884=
XR_941601.1:n.4203A>T
XR_941602.1:n.4203A>T
XR_941603.1:n.4203A>T
XR_941604.1:n.4203A>T
NM_001330578.1:c.3750A>T	NP_001317507.1:p.Ala1250=
NM_001330579.1:c.3732A>T	NP_001317508.1:p.Ala1244=
XM_005266424.4:c.3888A>T	XP_005266481.1:p.Ala1296=
XM_005266430.4:c.3984A>T	XP_005266487.1:p.Ala1328=
XM_005266431.4:c.3948A>T	XP_005266488.1:p.Ala1316=
XM_006719837.3:c.3888A>T	XP_006719900.1:p.Ala1296=
XM_011535117.3:c.3888A>T	XP_011533419.1:p.Ala1296=
XM_017020627.1:c.3888A>T	XP_016876116.1:p.Ala1296=
NM_000053.4:c.3984A>T MANE Select	NP_000044.2:p.Ala1328=
NM_001005918.3:c.3363A>T	NP_001005918.1:p.Ala1121=
NM_001330579.2:c.3732A>T	NP_001317508.1:p.Ala1244=
NM_001243182.2:c.3651A>T	NP_001230111.1:p.Ala1217=
NM_001330578.2:c.3750A>T	NP_001317507.1:p.Ala1250=