Canonical Allele Identifier: CA483893988

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515290A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941154A>G , CM000675.2:g.51941154A>G	GRCh38
NC_000013.10:g.52515290A>G , CM000675.1:g.52515290A>G	GRCh37
NC_000013.9:g.51413291A>G	NCBI36
NG_008806.1:g.75341T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1133T>C	ENSP00000489512.2:n.*1133T>C
ENST00000673864.2:c.*2227T>C	ENSP00000501045.2:n.*2227T>C
ENST00000674147.2:c.2862T>C	ENSP00000500964.2:p.Ile954=
ENST00000242839.10:c.3483T>C MANE Select	ENSP00000242839.5:p.Ile1161=
ENST00000344297.9:c.2862T>C	ENSP00000342559.5:p.Ile954=
ENST00000400366.6:c.3150T>C	ENSP00000383217.3:p.Ile1050=
ENST00000448424.7:c.3231T>C	ENSP00000416738.3:p.Ile1077=
ENST00000673772.1:c.3249T>C	ENSP00000501168.1:p.Ile1083=
ENST00000673867.1:n.3622T>C
ENST00000674126.1:n.3846T>C
ENST00000674147.1:c.2418T>C	ENSP00000500964.1:p.Ile806=
ENST00000242839.8:c.3483T>C	ENSP00000242839.4:p.Ile1161=
ENST00000344297.8:c.2862T>C	ENSP00000342559.5:p.Ile954=
ENST00000400366.5:c.3150T>C	ENSP00000383217.3:p.Ile1050=
ENST00000400370.8:c.2193T>C	ENSP00000383221.3:p.Ile731=
ENST00000418097.7:c.3288T>C	ENSP00000393343.2:p.Ile1096=
ENST00000448424.6:c.3249T>C	ENSP00000416738.2:p.Ile1083=
ENST00000634296.1:c.1261T>C
ENST00000634308.1:c.*584T>C	ENSP00000489234.1:n.*584T>C
ENST00000634620.1:n.4227T>C
ENST00000634810.1:n.2828T>C
ENST00000634844.1:c.3339T>C	ENSP00000489398.1:p.Ile1113=
NM_000053.3:c.3483T>C	NP_000044.2:p.Ile1161=
NM_001005918.2:c.2862T>C	NP_001005918.1:p.Ile954=
NM_001243182.1:c.3150T>C	NP_001230111.1:p.Ile1050=
XM_005266423.2:c.3387T>C	XP_005266480.1:p.Ile1129=
XM_005266424.3:c.3387T>C	XP_005266481.1:p.Ile1129=
XM_005266427.2:c.3249T>C	XP_005266484.1:p.Ile1083=
XM_005266428.1:c.3231T>C	XP_005266485.1:p.Ile1077=
XM_005266430.3:c.3483T>C	XP_005266487.1:p.Ile1161=
XM_005266431.2:c.3447T>C	XP_005266488.1:p.Ile1149=
XM_005266432.2:c.2997T>C	XP_005266489.1:p.Ile999=
XM_006719837.2:c.3387T>C	XP_006719900.1:p.Ile1129=
XM_006719838.1:c.1299T>C	XP_006719901.1:p.Ile433=
XM_006719839.1:c.1116T>C	XP_006719902.1:p.Ile372=
XM_011535117.1:c.3387T>C	XP_011533419.1:p.Ile1129=
XM_011535118.1:c.3348T>C	XP_011533420.1:p.Ile1116=
XM_011535119.1:c.3300T>C	XP_011533421.1:p.Ile1100=
XM_011535120.1:c.3069T>C	XP_011533422.1:p.Ile1023=
XM_011535121.1:c.2970T>C	XP_011533423.1:p.Ile990=
XM_011535122.1:c.2151T>C	XP_011533424.1:p.Ile717=
XR_941601.1:n.3702T>C
XR_941602.1:n.3702T>C
XR_941603.1:n.3702T>C
XR_941604.1:n.3702T>C
NM_001330578.1:c.3249T>C	NP_001317507.1:p.Ile1083=
NM_001330579.1:c.3231T>C	NP_001317508.1:p.Ile1077=
XM_005266424.4:c.3387T>C	XP_005266481.1:p.Ile1129=
XM_005266430.4:c.3483T>C	XP_005266487.1:p.Ile1161=
XM_005266431.4:c.3447T>C	XP_005266488.1:p.Ile1149=
XM_006719837.3:c.3387T>C	XP_006719900.1:p.Ile1129=
XM_011535117.3:c.3387T>C	XP_011533419.1:p.Ile1129=
XM_017020627.1:c.3387T>C	XP_016876116.1:p.Ile1129=
NM_000053.4:c.3483T>C MANE Select	NP_000044.2:p.Ile1161=
NM_001005918.3:c.2862T>C	NP_001005918.1:p.Ile954=
NM_001330579.2:c.3231T>C	NP_001317508.1:p.Ile1077=
NM_001243182.2:c.3150T>C	NP_001230111.1:p.Ile1050=
NM_001330578.2:c.3249T>C	NP_001317507.1:p.Ile1083=