Canonical Allele Identifier: CA483894133

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515329A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941193A>G , CM000675.2:g.51941193A>G	GRCh38
NC_000013.10:g.52515329A>G , CM000675.1:g.52515329A>G	GRCh37
NC_000013.9:g.51413330A>G	NCBI36
NG_008806.1:g.75302T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1094T>C	ENSP00000489512.2:n.*1094T>C
ENST00000673864.2:c.*2188T>C	ENSP00000501045.2:n.*2188T>C
ENST00000674147.2:c.2823T>C	ENSP00000500964.2:p.Ile941=
ENST00000242839.10:c.3444T>C MANE Select	ENSP00000242839.5:p.Ile1148=
ENST00000344297.9:c.2823T>C	ENSP00000342559.5:p.Ile941=
ENST00000400366.6:c.3111T>C	ENSP00000383217.3:p.Ile1037=
ENST00000448424.7:c.3192T>C	ENSP00000416738.3:p.Ile1064=
ENST00000673772.1:c.3210T>C	ENSP00000501168.1:p.Ile1070=
ENST00000673867.1:n.3583T>C
ENST00000674126.1:n.3807T>C
ENST00000674147.1:c.2379T>C	ENSP00000500964.1:p.Ile793=
ENST00000242839.8:c.3444T>C	ENSP00000242839.4:p.Ile1148=
ENST00000344297.8:c.2823T>C	ENSP00000342559.5:p.Ile941=
ENST00000400366.5:c.3111T>C	ENSP00000383217.3:p.Ile1037=
ENST00000400370.8:c.2154T>C	ENSP00000383221.3:p.Ile718=
ENST00000418097.7:c.3249T>C	ENSP00000393343.2:p.Ile1083=
ENST00000448424.6:c.3210T>C	ENSP00000416738.2:p.Ile1070=
ENST00000634296.1:c.1222T>C
ENST00000634308.1:c.*545T>C	ENSP00000489234.1:n.*545T>C
ENST00000634620.1:n.4188T>C
ENST00000634810.1:n.2789T>C
ENST00000634844.1:c.3300T>C	ENSP00000489398.1:p.Ile1100=
NM_000053.3:c.3444T>C	NP_000044.2:p.Ile1148=
NM_001005918.2:c.2823T>C	NP_001005918.1:p.Ile941=
NM_001243182.1:c.3111T>C	NP_001230111.1:p.Ile1037=
XM_005266423.2:c.3348T>C	XP_005266480.1:p.Ile1116=
XM_005266424.3:c.3348T>C	XP_005266481.1:p.Ile1116=
XM_005266427.2:c.3210T>C	XP_005266484.1:p.Ile1070=
XM_005266428.1:c.3192T>C	XP_005266485.1:p.Ile1064=
XM_005266430.3:c.3444T>C	XP_005266487.1:p.Ile1148=
XM_005266431.2:c.3408T>C	XP_005266488.1:p.Ile1136=
XM_005266432.2:c.2958T>C	XP_005266489.1:p.Ile986=
XM_006719837.2:c.3348T>C	XP_006719900.1:p.Ile1116=
XM_006719838.1:c.1260T>C	XP_006719901.1:p.Ile420=
XM_006719839.1:c.1077T>C	XP_006719902.1:p.Ile359=
XM_011535117.1:c.3348T>C	XP_011533419.1:p.Ile1116=
XM_011535118.1:c.3309T>C	XP_011533420.1:p.Ile1103=
XM_011535119.1:c.3261T>C	XP_011533421.1:p.Ile1087=
XM_011535120.1:c.3030T>C	XP_011533422.1:p.Ile1010=
XM_011535121.1:c.2931T>C	XP_011533423.1:p.Ile977=
XM_011535122.1:c.2112T>C	XP_011533424.1:p.Ile704=
XR_941601.1:n.3663T>C
XR_941602.1:n.3663T>C
XR_941603.1:n.3663T>C
XR_941604.1:n.3663T>C
NM_001330578.1:c.3210T>C	NP_001317507.1:p.Ile1070=
NM_001330579.1:c.3192T>C	NP_001317508.1:p.Ile1064=
XM_005266424.4:c.3348T>C	XP_005266481.1:p.Ile1116=
XM_005266430.4:c.3444T>C	XP_005266487.1:p.Ile1148=
XM_005266431.4:c.3408T>C	XP_005266488.1:p.Ile1136=
XM_006719837.3:c.3348T>C	XP_006719900.1:p.Ile1116=
XM_011535117.3:c.3348T>C	XP_011533419.1:p.Ile1116=
XM_017020627.1:c.3348T>C	XP_016876116.1:p.Ile1116=
NM_000053.4:c.3444T>C MANE Select	NP_000044.2:p.Ile1148=
NM_001005918.3:c.2823T>C	NP_001005918.1:p.Ile941=
NM_001330579.2:c.3192T>C	NP_001317508.1:p.Ile1064=
NM_001243182.2:c.3111T>C	NP_001230111.1:p.Ile1037=
NM_001330578.2:c.3210T>C	NP_001317507.1:p.Ile1070=