Canonical Allele Identifier: CA388019940

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52509730A>T (hg19) ; chr13:g.51935594A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935594A>T , CM000675.2:g.51935594A>T	GRCh38
NC_000013.10:g.52509730A>T , CM000675.1:g.52509730A>T	GRCh37
NC_000013.9:g.51407731A>T	NCBI36
NG_008806.1:g.80901T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1773T>A	ENSP00000489512.2:n.*1773T>A
ENST00000673864.2:c.*2867T>A	ENSP00000501045.2:n.*2867T>A
ENST00000674147.2:c.3502T>A	ENSP00000500964.2:p.Cys1168Ser
ENST00000242839.10:c.4123T>A MANE Select	ENSP00000242839.5:p.Cys1375Ser
ENST00000344297.9:c.3502T>A	ENSP00000342559.5:p.Cys1168Ser
ENST00000400366.6:c.3790T>A	ENSP00000383217.3:p.Cys1264Ser
ENST00000448424.7:c.3871T>A	ENSP00000416738.3:p.Cys1291Ser
ENST00000673696.1:n.1446T>A
ENST00000673772.1:c.3889T>A	ENSP00000501168.1:p.Cys1297Ser
ENST00000673867.1:n.4262T>A
ENST00000673923.1:n.989T>A
ENST00000674147.1:c.3058T>A	ENSP00000500964.1:p.Cys1020Ser
ENST00000242839.8:c.4123T>A	ENSP00000242839.4:p.Cys1375Ser
ENST00000344297.8:c.3502T>A	ENSP00000342559.5:p.Cys1168Ser
ENST00000400366.5:c.3790T>A	ENSP00000383217.3:p.Cys1264Ser
ENST00000400370.8:c.2833T>A	ENSP00000383221.3:p.Cys945Ser
ENST00000418097.7:c.3928T>A	ENSP00000393343.2:p.Cys1310Ser
ENST00000448424.6:c.3889T>A	ENSP00000416738.2:p.Cys1297Ser
ENST00000634296.1:c.1901T>A
ENST00000634308.1:c.*1224T>A	ENSP00000489234.1:n.*1224T>A
ENST00000634620.1:n.4867T>A
ENST00000634810.1:n.3468T>A
ENST00000634844.1:c.3979T>A	ENSP00000489398.1:p.Cys1327Ser
NM_000053.3:c.4123T>A	NP_000044.2:p.Cys1375Ser
NM_001005918.2:c.3502T>A	NP_001005918.1:p.Cys1168Ser
NM_001243182.1:c.3790T>A	NP_001230111.1:p.Cys1264Ser
XM_005266423.2:c.4027T>A	XP_005266480.1:p.Cys1343Ser
XM_005266424.3:c.4027T>A	XP_005266481.1:p.Cys1343Ser
XM_005266427.2:c.3889T>A	XP_005266484.1:p.Cys1297Ser
XM_005266428.1:c.3871T>A	XP_005266485.1:p.Cys1291Ser
XM_005266430.3:c.4123T>A	XP_005266487.1:p.Cys1375Ser
XM_005266431.2:c.4087T>A	XP_005266488.1:p.Cys1363Ser
XM_005266432.2:c.3637T>A	XP_005266489.1:p.Cys1213Ser
XM_006719837.2:c.4027T>A	XP_006719900.1:p.Cys1343Ser
XM_006719838.1:c.1939T>A	XP_006719901.1:p.Cys647Ser
XM_006719839.1:c.1756T>A	XP_006719902.1:p.Cys586Ser
XM_011535117.1:c.4027T>A	XP_011533419.1:p.Cys1343Ser
XM_011535118.1:c.3988T>A	XP_011533420.1:p.Cys1330Ser
XM_011535119.1:c.3940T>A	XP_011533421.1:p.Cys1314Ser
XM_011535120.1:c.3709T>A	XP_011533422.1:p.Cys1237Ser
XM_011535121.1:c.3610T>A	XP_011533423.1:p.Cys1204Ser
XM_011535122.1:c.2791T>A	XP_011533424.1:p.Cys931Ser
XR_941601.1:n.4342T>A
XR_941602.1:n.4342T>A
XR_941603.1:n.4342T>A
XR_941604.1:n.4342T>A
NM_001330578.1:c.3889T>A	NP_001317507.1:p.Cys1297Ser
NM_001330579.1:c.3871T>A	NP_001317508.1:p.Cys1291Ser
XM_005266424.4:c.4027T>A	XP_005266481.1:p.Cys1343Ser
XM_005266430.4:c.4123T>A	XP_005266487.1:p.Cys1375Ser
XM_005266431.4:c.4087T>A	XP_005266488.1:p.Cys1363Ser
XM_006719837.3:c.4027T>A	XP_006719900.1:p.Cys1343Ser
XM_011535117.3:c.4027T>A	XP_011533419.1:p.Cys1343Ser
XM_017020627.1:c.4027T>A	XP_016876116.1:p.Cys1343Ser
NM_000053.4:c.4123T>A MANE Select	NP_000044.2:p.Cys1375Ser
NM_001005918.3:c.3502T>A	NP_001005918.1:p.Cys1168Ser
NM_001330579.2:c.3871T>A	NP_001317508.1:p.Cys1291Ser
NM_001243182.2:c.3790T>A	NP_001230111.1:p.Cys1264Ser
NM_001330578.2:c.3889T>A	NP_001317507.1:p.Cys1297Ser