Canonical Allele Identifier: CA388023595

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513197A>G (hg19) ; chr13:g.51939061A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939061A>G , CM000675.2:g.51939061A>G	GRCh38
NC_000013.10:g.52513197A>G , CM000675.1:g.52513197A>G	GRCh37
NC_000013.9:g.51411198A>G	NCBI36
NG_008806.1:g.77434T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1339T>C	ENSP00000489512.2:n.*1339T>C
ENST00000673864.2:c.*2433T>C	ENSP00000501045.2:n.*2433T>C
ENST00000674147.2:c.3068T>C	ENSP00000500964.2:p.Ile1023Thr
ENST00000242839.10:c.3689T>C MANE Select	ENSP00000242839.5:p.Ile1230Thr
ENST00000344297.9:c.3068T>C	ENSP00000342559.5:p.Ile1023Thr
ENST00000400366.6:c.3356T>C	ENSP00000383217.3:p.Ile1119Thr
ENST00000448424.7:c.3437T>C	ENSP00000416738.3:p.Ile1146Thr
ENST00000673696.1:n.930T>C
ENST00000673772.1:c.3455T>C	ENSP00000501168.1:p.Ile1152Thr
ENST00000673867.1:n.3828T>C
ENST00000673923.1:n.555T>C
ENST00000674147.1:c.2624T>C	ENSP00000500964.1:p.Ile875Thr
ENST00000242839.8:c.3689T>C	ENSP00000242839.4:p.Ile1230Thr
ENST00000344297.8:c.3068T>C	ENSP00000342559.5:p.Ile1023Thr
ENST00000400366.5:c.3356T>C	ENSP00000383217.3:p.Ile1119Thr
ENST00000400370.8:c.2399T>C	ENSP00000383221.3:p.Ile800Thr
ENST00000418097.7:c.3494T>C	ENSP00000393343.2:p.Ile1165Thr
ENST00000448424.6:c.3455T>C	ENSP00000416738.2:p.Ile1152Thr
ENST00000634296.1:c.1467T>C
ENST00000634308.1:c.*790T>C	ENSP00000489234.1:n.*790T>C
ENST00000634620.1:n.4433T>C
ENST00000634810.1:n.3034T>C
ENST00000634844.1:c.3545T>C	ENSP00000489398.1:p.Ile1182Thr
NM_000053.3:c.3689T>C	NP_000044.2:p.Ile1230Thr
NM_001005918.2:c.3068T>C	NP_001005918.1:p.Ile1023Thr
NM_001243182.1:c.3356T>C	NP_001230111.1:p.Ile1119Thr
XM_005266423.2:c.3593T>C	XP_005266480.1:p.Ile1198Thr
XM_005266424.3:c.3593T>C	XP_005266481.1:p.Ile1198Thr
XM_005266427.2:c.3455T>C	XP_005266484.1:p.Ile1152Thr
XM_005266428.1:c.3437T>C	XP_005266485.1:p.Ile1146Thr
XM_005266430.3:c.3689T>C	XP_005266487.1:p.Ile1230Thr
XM_005266431.2:c.3653T>C	XP_005266488.1:p.Ile1218Thr
XM_005266432.2:c.3203T>C	XP_005266489.1:p.Ile1068Thr
XM_006719837.2:c.3593T>C	XP_006719900.1:p.Ile1198Thr
XM_006719838.1:c.1505T>C	XP_006719901.1:p.Ile502Thr
XM_006719839.1:c.1322T>C	XP_006719902.1:p.Ile441Thr
XM_011535117.1:c.3593T>C	XP_011533419.1:p.Ile1198Thr
XM_011535118.1:c.3554T>C	XP_011533420.1:p.Ile1185Thr
XM_011535119.1:c.3506T>C	XP_011533421.1:p.Ile1169Thr
XM_011535120.1:c.3275T>C	XP_011533422.1:p.Ile1092Thr
XM_011535121.1:c.3176T>C	XP_011533423.1:p.Ile1059Thr
XM_011535122.1:c.2357T>C	XP_011533424.1:p.Ile786Thr
XR_941601.1:n.3908T>C
XR_941602.1:n.3908T>C
XR_941603.1:n.3908T>C
XR_941604.1:n.3908T>C
NM_001330578.1:c.3455T>C	NP_001317507.1:p.Ile1152Thr
NM_001330579.1:c.3437T>C	NP_001317508.1:p.Ile1146Thr
XM_005266424.4:c.3593T>C	XP_005266481.1:p.Ile1198Thr
XM_005266430.4:c.3689T>C	XP_005266487.1:p.Ile1230Thr
XM_005266431.4:c.3653T>C	XP_005266488.1:p.Ile1218Thr
XM_006719837.3:c.3593T>C	XP_006719900.1:p.Ile1198Thr
XM_011535117.3:c.3593T>C	XP_011533419.1:p.Ile1198Thr
XM_017020627.1:c.3593T>C	XP_016876116.1:p.Ile1198Thr
NM_000053.4:c.3689T>C MANE Select	NP_000044.2:p.Ile1230Thr
NM_001005918.3:c.3068T>C	NP_001005918.1:p.Ile1023Thr
NM_001330579.2:c.3437T>C	NP_001317508.1:p.Ile1146Thr
NM_001243182.2:c.3356T>C	NP_001230111.1:p.Ile1119Thr
NM_001330578.2:c.3455T>C	NP_001317507.1:p.Ile1152Thr