Canonical Allele Identifier: CA483896192

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52532624T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51958488T>G , CM000675.2:g.51958488T>G	GRCh38
NC_000013.10:g.52532624T>G , CM000675.1:g.52532624T>G	GRCh37
NC_000013.9:g.51430625T>G	NCBI36
NG_008806.1:g.58007A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*11A>C	ENSP00000489512.2:n.*11A>C
ENST00000673864.2:c.*922A>C	ENSP00000501045.2:n.*922A>C
ENST00000674147.2:c.1870-881A>C	ENSP00000500964.2:n.1870-881A>C
ENST00000242839.10:c.2178A>C MANE Select	ENSP00000242839.5:p.Ser726=
ENST00000344297.9:c.1870-881A>C	ENSP00000342559.5:n.1870-881A>C
ENST00000400366.6:c.1845A>C	ENSP00000383217.3:p.Ser615=
ENST00000448424.7:c.1926A>C	ENSP00000416738.3:p.Ser642=
ENST00000673772.1:c.2122-881A>C	ENSP00000501168.1:n.2122-881A>C
ENST00000674147.1:c.1426-881A>C	ENSP00000500964.1:n.1426-881A>C
ENST00000242839.8:c.2178A>C	ENSP00000242839.4:p.Ser726=
ENST00000344297.8:c.1870-881A>C	ENSP00000342559.5:n.1870-881A>C
ENST00000400366.5:c.1845A>C	ENSP00000383217.3:p.Ser615=
ENST00000400370.8:c.1286-8327A>C	ENSP00000383221.3:n.1286-8327A>C
ENST00000418097.7:c.2178A>C	ENSP00000393343.2:p.Ser726=
ENST00000448424.6:c.2122-881A>C	ENSP00000416738.2:n.2122-881A>C
ENST00000482841.6:n.1721A>C
ENST00000634296.1:c.139A>C
ENST00000634308.1:c.2122-881A>C	ENSP00000489234.1:n.2122-881A>C
ENST00000634620.1:n.2273A>C
ENST00000634810.1:n.1523A>C
ENST00000634844.1:c.2122-88A>C	ENSP00000489398.1:n.2122-88A>C
ENST00000635406.1:n.212-12010A>C
NM_000053.3:c.2178A>C	NP_000044.2:p.Ser726=
NM_001005918.2:c.1870-881A>C	NP_001005918.1:n.1870-881A>C
NM_001243182.1:c.1845A>C	NP_001230111.1:p.Ser615=
XM_005266423.2:c.2082A>C	XP_005266480.1:p.Ser694=
XM_005266424.3:c.2082A>C	XP_005266481.1:p.Ser694=
XM_005266427.2:c.2122-881A>C	XP_005266484.1:n.2122-881A>C
XM_005266428.1:c.1926A>C	XP_005266485.1:p.Ser642=
XM_005266430.3:c.2178A>C	XP_005266487.1:p.Ser726=
XM_005266431.2:c.2142A>C	XP_005266488.1:p.Ser714=
XM_005266432.2:c.1870-881A>C	XP_005266489.1:n.1870-881A>C
XM_006719837.2:c.2082A>C	XP_006719900.1:p.Ser694=
XM_006719838.1:c.-7A>C	XP_006719901.1:n.-7A>C
XM_006719839.1:c.-7A>C	XP_006719902.1:n.-7A>C
XM_011535117.1:c.2082A>C	XP_011533419.1:p.Ser694=
XM_011535118.1:c.2178A>C	XP_011533420.1:p.Ser726=
XM_011535119.1:c.2178A>C	XP_011533421.1:p.Ser726=
XM_011535120.1:c.1764A>C	XP_011533422.1:p.Ser588=
XM_011535121.1:c.2178A>C	XP_011533423.1:p.Ser726=
XM_011535122.1:c.846A>C	XP_011533424.1:p.Ser282=
XR_941601.1:n.2397A>C
XR_941602.1:n.2397A>C
XR_941603.1:n.2397A>C
XR_941604.1:n.2397A>C
NM_001330578.1:c.2122-881A>C	NP_001317507.1:n.2122-881A>C
NM_001330579.1:c.1926A>C	NP_001317508.1:p.Ser642=
XM_005266424.4:c.2082A>C	XP_005266481.1:p.Ser694=
XM_005266430.4:c.2178A>C	XP_005266487.1:p.Ser726=
XM_005266431.4:c.2142A>C	XP_005266488.1:p.Ser714=
XM_006719837.3:c.2082A>C	XP_006719900.1:p.Ser694=
XM_011535117.3:c.2082A>C	XP_011533419.1:p.Ser694=
XM_017020627.1:c.2082A>C	XP_016876116.1:p.Ser694=
NM_000053.4:c.2178A>C MANE Select	NP_000044.2:p.Ser726=
NM_001005918.3:c.1870-881A>C	NP_001005918.1:n.1870-881A>C
NM_001330579.2:c.1926A>C	NP_001317508.1:p.Ser642=
NM_001243182.2:c.1845A>C	NP_001230111.1:p.Ser615=
NM_001330578.2:c.2122-881A>C	NP_001317507.1:n.2122-881A>C