Canonical Allele Identifier: CA388020235

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52509811T>G (hg19) ; chr13:g.51935675T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935675T>G , CM000675.2:g.51935675T>G	GRCh38
NC_000013.10:g.52509811T>G , CM000675.1:g.52509811T>G	GRCh37
NC_000013.9:g.51407812T>G	NCBI36
NG_008806.1:g.80820A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1692A>C	ENSP00000489512.2:n.*1692A>C
ENST00000673864.2:c.*2786A>C	ENSP00000501045.2:n.*2786A>C
ENST00000674147.2:c.3421A>C	ENSP00000500964.2:p.Ile1141Leu
ENST00000242839.10:c.4042A>C MANE Select	ENSP00000242839.5:p.Ile1348Leu
ENST00000344297.9:c.3421A>C	ENSP00000342559.5:p.Ile1141Leu
ENST00000400366.6:c.3709A>C	ENSP00000383217.3:p.Ile1237Leu
ENST00000448424.7:c.3790A>C	ENSP00000416738.3:p.Ile1264Leu
ENST00000673696.1:n.1365A>C
ENST00000673772.1:c.3808A>C	ENSP00000501168.1:p.Ile1270Leu
ENST00000673867.1:n.4181A>C
ENST00000673923.1:n.908A>C
ENST00000674147.1:c.2977A>C	ENSP00000500964.1:p.Ile993Leu
ENST00000242839.8:c.4042A>C	ENSP00000242839.4:p.Ile1348Leu
ENST00000344297.8:c.3421A>C	ENSP00000342559.5:p.Ile1141Leu
ENST00000400366.5:c.3709A>C	ENSP00000383217.3:p.Ile1237Leu
ENST00000400370.8:c.2752A>C	ENSP00000383221.3:p.Ile918Leu
ENST00000418097.7:c.3847A>C	ENSP00000393343.2:p.Ile1283Leu
ENST00000448424.6:c.3808A>C	ENSP00000416738.2:p.Ile1270Leu
ENST00000634296.1:c.1820A>C
ENST00000634308.1:c.*1143A>C	ENSP00000489234.1:n.*1143A>C
ENST00000634620.1:n.4786A>C
ENST00000634810.1:n.3387A>C
ENST00000634844.1:c.3898A>C	ENSP00000489398.1:p.Ile1300Leu
NM_000053.3:c.4042A>C	NP_000044.2:p.Ile1348Leu
NM_001005918.2:c.3421A>C	NP_001005918.1:p.Ile1141Leu
NM_001243182.1:c.3709A>C	NP_001230111.1:p.Ile1237Leu
XM_005266423.2:c.3946A>C	XP_005266480.1:p.Ile1316Leu
XM_005266424.3:c.3946A>C	XP_005266481.1:p.Ile1316Leu
XM_005266427.2:c.3808A>C	XP_005266484.1:p.Ile1270Leu
XM_005266428.1:c.3790A>C	XP_005266485.1:p.Ile1264Leu
XM_005266430.3:c.4042A>C	XP_005266487.1:p.Ile1348Leu
XM_005266431.2:c.4006A>C	XP_005266488.1:p.Ile1336Leu
XM_005266432.2:c.3556A>C	XP_005266489.1:p.Ile1186Leu
XM_006719837.2:c.3946A>C	XP_006719900.1:p.Ile1316Leu
XM_006719838.1:c.1858A>C	XP_006719901.1:p.Ile620Leu
XM_006719839.1:c.1675A>C	XP_006719902.1:p.Ile559Leu
XM_011535117.1:c.3946A>C	XP_011533419.1:p.Ile1316Leu
XM_011535118.1:c.3907A>C	XP_011533420.1:p.Ile1303Leu
XM_011535119.1:c.3859A>C	XP_011533421.1:p.Ile1287Leu
XM_011535120.1:c.3628A>C	XP_011533422.1:p.Ile1210Leu
XM_011535121.1:c.3529A>C	XP_011533423.1:p.Ile1177Leu
XM_011535122.1:c.2710A>C	XP_011533424.1:p.Ile904Leu
XR_941601.1:n.4261A>C
XR_941602.1:n.4261A>C
XR_941603.1:n.4261A>C
XR_941604.1:n.4261A>C
NM_001330578.1:c.3808A>C	NP_001317507.1:p.Ile1270Leu
NM_001330579.1:c.3790A>C	NP_001317508.1:p.Ile1264Leu
XM_005266424.4:c.3946A>C	XP_005266481.1:p.Ile1316Leu
XM_005266430.4:c.4042A>C	XP_005266487.1:p.Ile1348Leu
XM_005266431.4:c.4006A>C	XP_005266488.1:p.Ile1336Leu
XM_006719837.3:c.3946A>C	XP_006719900.1:p.Ile1316Leu
XM_011535117.3:c.3946A>C	XP_011533419.1:p.Ile1316Leu
XM_017020627.1:c.3946A>C	XP_016876116.1:p.Ile1316Leu
NM_000053.4:c.4042A>C MANE Select	NP_000044.2:p.Ile1348Leu
NM_001005918.3:c.3421A>C	NP_001005918.1:p.Ile1141Leu
NM_001330579.2:c.3790A>C	NP_001317508.1:p.Ile1264Leu
NM_001243182.2:c.3709A>C	NP_001230111.1:p.Ile1237Leu
NM_001330578.2:c.3808A>C	NP_001317507.1:p.Ile1270Leu