Canonical Allele Identifier: CA388019928

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52509729C>A (hg19) ; chr13:g.51935593C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935593C>A , CM000675.2:g.51935593C>A	GRCh38
NC_000013.10:g.52509729C>A , CM000675.1:g.52509729C>A	GRCh37
NC_000013.9:g.51407730C>A	NCBI36
NG_008806.1:g.80902G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1774G>T	ENSP00000489512.2:n.*1774G>T
ENST00000673864.2:c.*2868G>T	ENSP00000501045.2:n.*2868G>T
ENST00000674147.2:c.3503G>T	ENSP00000500964.2:p.Cys1168Phe
ENST00000242839.10:c.4124G>T MANE Select	ENSP00000242839.5:p.Cys1375Phe
ENST00000344297.9:c.3503G>T	ENSP00000342559.5:p.Cys1168Phe
ENST00000400366.6:c.3791G>T	ENSP00000383217.3:p.Cys1264Phe
ENST00000448424.7:c.3872G>T	ENSP00000416738.3:p.Cys1291Phe
ENST00000673696.1:n.1447G>T
ENST00000673772.1:c.3890G>T	ENSP00000501168.1:p.Cys1297Phe
ENST00000673867.1:n.4263G>T
ENST00000673923.1:n.990G>T
ENST00000674147.1:c.3059G>T	ENSP00000500964.1:p.Cys1020Phe
ENST00000242839.8:c.4124G>T	ENSP00000242839.4:p.Cys1375Phe
ENST00000344297.8:c.3503G>T	ENSP00000342559.5:p.Cys1168Phe
ENST00000400366.5:c.3791G>T	ENSP00000383217.3:p.Cys1264Phe
ENST00000400370.8:c.2834G>T	ENSP00000383221.3:p.Cys945Phe
ENST00000418097.7:c.3929G>T	ENSP00000393343.2:p.Cys1310Phe
ENST00000448424.6:c.3890G>T	ENSP00000416738.2:p.Cys1297Phe
ENST00000634296.1:c.1902G>T
ENST00000634308.1:c.*1225G>T	ENSP00000489234.1:n.*1225G>T
ENST00000634620.1:n.4868G>T
ENST00000634810.1:n.3469G>T
ENST00000634844.1:c.3980G>T	ENSP00000489398.1:p.Cys1327Phe
NM_000053.3:c.4124G>T	NP_000044.2:p.Cys1375Phe
NM_001005918.2:c.3503G>T	NP_001005918.1:p.Cys1168Phe
NM_001243182.1:c.3791G>T	NP_001230111.1:p.Cys1264Phe
XM_005266423.2:c.4028G>T	XP_005266480.1:p.Cys1343Phe
XM_005266424.3:c.4028G>T	XP_005266481.1:p.Cys1343Phe
XM_005266427.2:c.3890G>T	XP_005266484.1:p.Cys1297Phe
XM_005266428.1:c.3872G>T	XP_005266485.1:p.Cys1291Phe
XM_005266430.3:c.4124G>T	XP_005266487.1:p.Cys1375Phe
XM_005266431.2:c.4088G>T	XP_005266488.1:p.Cys1363Phe
XM_005266432.2:c.3638G>T	XP_005266489.1:p.Cys1213Phe
XM_006719837.2:c.4028G>T	XP_006719900.1:p.Cys1343Phe
XM_006719838.1:c.1940G>T	XP_006719901.1:p.Cys647Phe
XM_006719839.1:c.1757G>T	XP_006719902.1:p.Cys586Phe
XM_011535117.1:c.4028G>T	XP_011533419.1:p.Cys1343Phe
XM_011535118.1:c.3989G>T	XP_011533420.1:p.Cys1330Phe
XM_011535119.1:c.3941G>T	XP_011533421.1:p.Cys1314Phe
XM_011535120.1:c.3710G>T	XP_011533422.1:p.Cys1237Phe
XM_011535121.1:c.3611G>T	XP_011533423.1:p.Cys1204Phe
XM_011535122.1:c.2792G>T	XP_011533424.1:p.Cys931Phe
XR_941601.1:n.4343G>T
XR_941602.1:n.4343G>T
XR_941603.1:n.4343G>T
XR_941604.1:n.4343G>T
NM_001330578.1:c.3890G>T	NP_001317507.1:p.Cys1297Phe
NM_001330579.1:c.3872G>T	NP_001317508.1:p.Cys1291Phe
XM_005266424.4:c.4028G>T	XP_005266481.1:p.Cys1343Phe
XM_005266430.4:c.4124G>T	XP_005266487.1:p.Cys1375Phe
XM_005266431.4:c.4088G>T	XP_005266488.1:p.Cys1363Phe
XM_006719837.3:c.4028G>T	XP_006719900.1:p.Cys1343Phe
XM_011535117.3:c.4028G>T	XP_011533419.1:p.Cys1343Phe
XM_017020627.1:c.4028G>T	XP_016876116.1:p.Cys1343Phe
NM_000053.4:c.4124G>T MANE Select	NP_000044.2:p.Cys1375Phe
NM_001005918.3:c.3503G>T	NP_001005918.1:p.Cys1168Phe
NM_001330579.2:c.3872G>T	NP_001317508.1:p.Cys1291Phe
NM_001243182.2:c.3791G>T	NP_001230111.1:p.Cys1264Phe
NM_001330578.2:c.3890G>T	NP_001317507.1:p.Cys1297Phe