Canonical Allele Identifier: CA388021342

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511612T>G (hg19) ; chr13:g.51937476T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937476T>G , CM000675.2:g.51937476T>G	GRCh38
NC_000013.10:g.52511612T>G , CM000675.1:g.52511612T>G	GRCh37
NC_000013.9:g.51409613T>G	NCBI36
NG_008806.1:g.79019A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1553A>C	ENSP00000489512.2:n.*1553A>C
ENST00000673864.2:c.*2647A>C	ENSP00000501045.2:n.*2647A>C
ENST00000674147.2:c.3282A>C	ENSP00000500964.2:p.Arg1094Ser
ENST00000242839.10:c.3903A>C MANE Select	ENSP00000242839.5:p.Arg1301Ser
ENST00000344297.9:c.3282A>C	ENSP00000342559.5:p.Arg1094Ser
ENST00000400366.6:c.3570A>C	ENSP00000383217.3:p.Arg1190Ser
ENST00000448424.7:c.3651A>C	ENSP00000416738.3:p.Arg1217Ser
ENST00000673696.1:n.1144A>C
ENST00000673772.1:c.3669A>C	ENSP00000501168.1:p.Arg1223Ser
ENST00000673867.1:n.4042A>C
ENST00000673923.1:n.769A>C
ENST00000674147.1:c.2838A>C	ENSP00000500964.1:p.Arg946Ser
ENST00000242839.8:c.3903A>C	ENSP00000242839.4:p.Arg1301Ser
ENST00000344297.8:c.3282A>C	ENSP00000342559.5:p.Arg1094Ser
ENST00000400366.5:c.3570A>C	ENSP00000383217.3:p.Arg1190Ser
ENST00000400370.8:c.2613A>C	ENSP00000383221.3:p.Arg871Ser
ENST00000418097.7:c.3708A>C	ENSP00000393343.2:p.Arg1236Ser
ENST00000448424.6:c.3669A>C	ENSP00000416738.2:p.Arg1223Ser
ENST00000634296.1:c.1681A>C
ENST00000634308.1:c.*1004A>C	ENSP00000489234.1:n.*1004A>C
ENST00000634620.1:n.4647A>C
ENST00000634810.1:n.3248A>C
ENST00000634844.1:c.3759A>C	ENSP00000489398.1:p.Arg1253Ser
NM_000053.3:c.3903A>C	NP_000044.2:p.Arg1301Ser
NM_001005918.2:c.3282A>C	NP_001005918.1:p.Arg1094Ser
NM_001243182.1:c.3570A>C	NP_001230111.1:p.Arg1190Ser
XM_005266423.2:c.3807A>C	XP_005266480.1:p.Arg1269Ser
XM_005266424.3:c.3807A>C	XP_005266481.1:p.Arg1269Ser
XM_005266427.2:c.3669A>C	XP_005266484.1:p.Arg1223Ser
XM_005266428.1:c.3651A>C	XP_005266485.1:p.Arg1217Ser
XM_005266430.3:c.3903A>C	XP_005266487.1:p.Arg1301Ser
XM_005266431.2:c.3867A>C	XP_005266488.1:p.Arg1289Ser
XM_005266432.2:c.3417A>C	XP_005266489.1:p.Arg1139Ser
XM_006719837.2:c.3807A>C	XP_006719900.1:p.Arg1269Ser
XM_006719838.1:c.1719A>C	XP_006719901.1:p.Arg573Ser
XM_006719839.1:c.1536A>C	XP_006719902.1:p.Arg512Ser
XM_011535117.1:c.3807A>C	XP_011533419.1:p.Arg1269Ser
XM_011535118.1:c.3768A>C	XP_011533420.1:p.Arg1256Ser
XM_011535119.1:c.3720A>C	XP_011533421.1:p.Arg1240Ser
XM_011535120.1:c.3489A>C	XP_011533422.1:p.Arg1163Ser
XM_011535121.1:c.3390A>C	XP_011533423.1:p.Arg1130Ser
XM_011535122.1:c.2571A>C	XP_011533424.1:p.Arg857Ser
XR_941601.1:n.4122A>C
XR_941602.1:n.4122A>C
XR_941603.1:n.4122A>C
XR_941604.1:n.4122A>C
NM_001330578.1:c.3669A>C	NP_001317507.1:p.Arg1223Ser
NM_001330579.1:c.3651A>C	NP_001317508.1:p.Arg1217Ser
XM_005266424.4:c.3807A>C	XP_005266481.1:p.Arg1269Ser
XM_005266430.4:c.3903A>C	XP_005266487.1:p.Arg1301Ser
XM_005266431.4:c.3867A>C	XP_005266488.1:p.Arg1289Ser
XM_006719837.3:c.3807A>C	XP_006719900.1:p.Arg1269Ser
XM_011535117.3:c.3807A>C	XP_011533419.1:p.Arg1269Ser
XM_017020627.1:c.3807A>C	XP_016876116.1:p.Arg1269Ser
NM_000053.4:c.3903A>C MANE Select	NP_000044.2:p.Arg1301Ser
NM_001005918.3:c.3282A>C	NP_001005918.1:p.Arg1094Ser
NM_001330579.2:c.3651A>C	NP_001317508.1:p.Arg1217Ser
NM_001243182.2:c.3570A>C	NP_001230111.1:p.Arg1190Ser
NM_001330578.2:c.3669A>C	NP_001317507.1:p.Arg1223Ser