Canonical Allele Identifier: CA388023867

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513230A>G (hg19) ; chr13:g.51939094A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939094A>G , CM000675.2:g.51939094A>G	GRCh38
NC_000013.10:g.52513230A>G , CM000675.1:g.52513230A>G	GRCh37
NC_000013.9:g.51411231A>G	NCBI36
NG_008806.1:g.77401T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1306T>C	ENSP00000489512.2:n.*1306T>C
ENST00000673864.2:c.*2400T>C	ENSP00000501045.2:n.*2400T>C
ENST00000674147.2:c.3035T>C	ENSP00000500964.2:p.Ile1012Thr
ENST00000242839.10:c.3656T>C MANE Select	ENSP00000242839.5:p.Ile1219Thr
ENST00000344297.9:c.3035T>C	ENSP00000342559.5:p.Ile1012Thr
ENST00000400366.6:c.3323T>C	ENSP00000383217.3:p.Ile1108Thr
ENST00000448424.7:c.3404T>C	ENSP00000416738.3:p.Ile1135Thr
ENST00000673696.1:n.897T>C
ENST00000673772.1:c.3422T>C	ENSP00000501168.1:p.Ile1141Thr
ENST00000673867.1:n.3795T>C
ENST00000673923.1:n.522T>C
ENST00000674147.1:c.2591T>C	ENSP00000500964.1:p.Ile864Thr
ENST00000242839.8:c.3656T>C	ENSP00000242839.4:p.Ile1219Thr
ENST00000344297.8:c.3035T>C	ENSP00000342559.5:p.Ile1012Thr
ENST00000400366.5:c.3323T>C	ENSP00000383217.3:p.Ile1108Thr
ENST00000400370.8:c.2366T>C	ENSP00000383221.3:p.Ile789Thr
ENST00000418097.7:c.3461T>C	ENSP00000393343.2:p.Ile1154Thr
ENST00000448424.6:c.3422T>C	ENSP00000416738.2:p.Ile1141Thr
ENST00000634296.1:c.1434T>C
ENST00000634308.1:c.*757T>C	ENSP00000489234.1:n.*757T>C
ENST00000634620.1:n.4400T>C
ENST00000634810.1:n.3001T>C
ENST00000634844.1:c.3512T>C	ENSP00000489398.1:p.Ile1171Thr
NM_000053.3:c.3656T>C	NP_000044.2:p.Ile1219Thr
NM_001005918.2:c.3035T>C	NP_001005918.1:p.Ile1012Thr
NM_001243182.1:c.3323T>C	NP_001230111.1:p.Ile1108Thr
XM_005266423.2:c.3560T>C	XP_005266480.1:p.Ile1187Thr
XM_005266424.3:c.3560T>C	XP_005266481.1:p.Ile1187Thr
XM_005266427.2:c.3422T>C	XP_005266484.1:p.Ile1141Thr
XM_005266428.1:c.3404T>C	XP_005266485.1:p.Ile1135Thr
XM_005266430.3:c.3656T>C	XP_005266487.1:p.Ile1219Thr
XM_005266431.2:c.3620T>C	XP_005266488.1:p.Ile1207Thr
XM_005266432.2:c.3170T>C	XP_005266489.1:p.Ile1057Thr
XM_006719837.2:c.3560T>C	XP_006719900.1:p.Ile1187Thr
XM_006719838.1:c.1472T>C	XP_006719901.1:p.Ile491Thr
XM_006719839.1:c.1289T>C	XP_006719902.1:p.Ile430Thr
XM_011535117.1:c.3560T>C	XP_011533419.1:p.Ile1187Thr
XM_011535118.1:c.3521T>C	XP_011533420.1:p.Ile1174Thr
XM_011535119.1:c.3473T>C	XP_011533421.1:p.Ile1158Thr
XM_011535120.1:c.3242T>C	XP_011533422.1:p.Ile1081Thr
XM_011535121.1:c.3143T>C	XP_011533423.1:p.Ile1048Thr
XM_011535122.1:c.2324T>C	XP_011533424.1:p.Ile775Thr
XR_941601.1:n.3875T>C
XR_941602.1:n.3875T>C
XR_941603.1:n.3875T>C
XR_941604.1:n.3875T>C
NM_001330578.1:c.3422T>C	NP_001317507.1:p.Ile1141Thr
NM_001330579.1:c.3404T>C	NP_001317508.1:p.Ile1135Thr
XM_005266424.4:c.3560T>C	XP_005266481.1:p.Ile1187Thr
XM_005266430.4:c.3656T>C	XP_005266487.1:p.Ile1219Thr
XM_005266431.4:c.3620T>C	XP_005266488.1:p.Ile1207Thr
XM_006719837.3:c.3560T>C	XP_006719900.1:p.Ile1187Thr
XM_011535117.3:c.3560T>C	XP_011533419.1:p.Ile1187Thr
XM_017020627.1:c.3560T>C	XP_016876116.1:p.Ile1187Thr
NM_000053.4:c.3656T>C MANE Select	NP_000044.2:p.Ile1219Thr
NM_001005918.3:c.3035T>C	NP_001005918.1:p.Ile1012Thr
NM_001330579.2:c.3404T>C	NP_001317508.1:p.Ile1135Thr
NM_001243182.2:c.3323T>C	NP_001230111.1:p.Ile1108Thr
NM_001330578.2:c.3422T>C	NP_001317507.1:p.Ile1141Thr