Canonical Allele Identifier: CA483893718

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513229G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939093G>T , CM000675.2:g.51939093G>T	GRCh38
NC_000013.10:g.52513229G>T , CM000675.1:g.52513229G>T	GRCh37
NC_000013.9:g.51411230G>T	NCBI36
NG_008806.1:g.77402C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1307C>A	ENSP00000489512.2:n.*1307C>A
ENST00000673864.2:c.*2401C>A	ENSP00000501045.2:n.*2401C>A
ENST00000674147.2:c.3036C>A	ENSP00000500964.2:p.Ile1012=
ENST00000242839.10:c.3657C>A MANE Select	ENSP00000242839.5:p.Ile1219=
ENST00000344297.9:c.3036C>A	ENSP00000342559.5:p.Ile1012=
ENST00000400366.6:c.3324C>A	ENSP00000383217.3:p.Ile1108=
ENST00000448424.7:c.3405C>A	ENSP00000416738.3:p.Ile1135=
ENST00000673696.1:n.898C>A
ENST00000673772.1:c.3423C>A	ENSP00000501168.1:p.Ile1141=
ENST00000673867.1:n.3796C>A
ENST00000673923.1:n.523C>A
ENST00000674147.1:c.2592C>A	ENSP00000500964.1:p.Ile864=
ENST00000242839.8:c.3657C>A	ENSP00000242839.4:p.Ile1219=
ENST00000344297.8:c.3036C>A	ENSP00000342559.5:p.Ile1012=
ENST00000400366.5:c.3324C>A	ENSP00000383217.3:p.Ile1108=
ENST00000400370.8:c.2367C>A	ENSP00000383221.3:p.Ile789=
ENST00000418097.7:c.3462C>A	ENSP00000393343.2:p.Ile1154=
ENST00000448424.6:c.3423C>A	ENSP00000416738.2:p.Ile1141=
ENST00000634296.1:c.1435C>A
ENST00000634308.1:c.*758C>A	ENSP00000489234.1:n.*758C>A
ENST00000634620.1:n.4401C>A
ENST00000634810.1:n.3002C>A
ENST00000634844.1:c.3513C>A	ENSP00000489398.1:p.Ile1171=
NM_000053.3:c.3657C>A	NP_000044.2:p.Ile1219=
NM_001005918.2:c.3036C>A	NP_001005918.1:p.Ile1012=
NM_001243182.1:c.3324C>A	NP_001230111.1:p.Ile1108=
XM_005266423.2:c.3561C>A	XP_005266480.1:p.Ile1187=
XM_005266424.3:c.3561C>A	XP_005266481.1:p.Ile1187=
XM_005266427.2:c.3423C>A	XP_005266484.1:p.Ile1141=
XM_005266428.1:c.3405C>A	XP_005266485.1:p.Ile1135=
XM_005266430.3:c.3657C>A	XP_005266487.1:p.Ile1219=
XM_005266431.2:c.3621C>A	XP_005266488.1:p.Ile1207=
XM_005266432.2:c.3171C>A	XP_005266489.1:p.Ile1057=
XM_006719837.2:c.3561C>A	XP_006719900.1:p.Ile1187=
XM_006719838.1:c.1473C>A	XP_006719901.1:p.Ile491=
XM_006719839.1:c.1290C>A	XP_006719902.1:p.Ile430=
XM_011535117.1:c.3561C>A	XP_011533419.1:p.Ile1187=
XM_011535118.1:c.3522C>A	XP_011533420.1:p.Ile1174=
XM_011535119.1:c.3474C>A	XP_011533421.1:p.Ile1158=
XM_011535120.1:c.3243C>A	XP_011533422.1:p.Ile1081=
XM_011535121.1:c.3144C>A	XP_011533423.1:p.Ile1048=
XM_011535122.1:c.2325C>A	XP_011533424.1:p.Ile775=
XR_941601.1:n.3876C>A
XR_941602.1:n.3876C>A
XR_941603.1:n.3876C>A
XR_941604.1:n.3876C>A
NM_001330578.1:c.3423C>A	NP_001317507.1:p.Ile1141=
NM_001330579.1:c.3405C>A	NP_001317508.1:p.Ile1135=
XM_005266424.4:c.3561C>A	XP_005266481.1:p.Ile1187=
XM_005266430.4:c.3657C>A	XP_005266487.1:p.Ile1219=
XM_005266431.4:c.3621C>A	XP_005266488.1:p.Ile1207=
XM_006719837.3:c.3561C>A	XP_006719900.1:p.Ile1187=
XM_011535117.3:c.3561C>A	XP_011533419.1:p.Ile1187=
XM_017020627.1:c.3561C>A	XP_016876116.1:p.Ile1187=
NM_000053.4:c.3657C>A MANE Select	NP_000044.2:p.Ile1219=
NM_001005918.3:c.3036C>A	NP_001005918.1:p.Ile1012=
NM_001330579.2:c.3405C>A	NP_001317508.1:p.Ile1135=
NM_001243182.2:c.3324C>A	NP_001230111.1:p.Ile1108=
NM_001330578.2:c.3423C>A	NP_001317507.1:p.Ile1141=