Canonical Allele Identifier: CA388019461

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52509055T>G (hg19) ; chr13:g.51934919T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51934919T>G , CM000675.2:g.51934919T>G	GRCh38
NC_000013.10:g.52509055T>G , CM000675.1:g.52509055T>G	GRCh37
NC_000013.9:g.51407056T>G	NCBI36
NG_008806.1:g.81576A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1885A>C	ENSP00000489512.2:n.*1885A>C
ENST00000673864.2:c.*2979A>C	ENSP00000501045.2:n.*2979A>C
ENST00000674147.2:c.3614A>C	ENSP00000500964.2:p.Asp1205Ala
ENST00000242839.10:c.4235A>C MANE Select	ENSP00000242839.5:p.Asp1412Ala
ENST00000344297.9:c.3614A>C	ENSP00000342559.5:p.Asp1205Ala
ENST00000400366.6:c.3902A>C	ENSP00000383217.3:p.Asp1301Ala
ENST00000448424.7:c.3983A>C	ENSP00000416738.3:p.Asp1328Ala
ENST00000673696.1:n.1558A>C
ENST00000673772.1:c.4001A>C	ENSP00000501168.1:p.Asp1334Ala
ENST00000673867.1:n.4374A>C
ENST00000673923.1:n.1101A>C
ENST00000674147.1:c.3170A>C	ENSP00000500964.1:p.Asp1057Ala
ENST00000242839.8:c.4235A>C	ENSP00000242839.4:p.Asp1412Ala
ENST00000344297.8:c.3614A>C	ENSP00000342559.5:p.Asp1205Ala
ENST00000400366.5:c.3902A>C	ENSP00000383217.3:p.Asp1301Ala
ENST00000400370.8:c.2945A>C	ENSP00000383221.3:p.Asp982Ala
ENST00000418097.7:c.4040A>C	ENSP00000393343.2:p.Asp1347Ala
ENST00000448424.6:c.4001A>C	ENSP00000416738.2:p.Asp1334Ala
ENST00000634296.1:c.2013A>C
ENST00000634308.1:c.*1336A>C	ENSP00000489234.1:n.*1336A>C
ENST00000634620.1:n.4979A>C
ENST00000634810.1:n.3580A>C
ENST00000634844.1:c.4091A>C	ENSP00000489398.1:p.Asp1364Ala
NM_000053.3:c.4235A>C	NP_000044.2:p.Asp1412Ala
NM_001005918.2:c.3614A>C	NP_001005918.1:p.Asp1205Ala
NM_001243182.1:c.3902A>C	NP_001230111.1:p.Asp1301Ala
XM_005266423.2:c.4139A>C	XP_005266480.1:p.Asp1380Ala
XM_005266424.3:c.4139A>C	XP_005266481.1:p.Asp1380Ala
XM_005266427.2:c.4001A>C	XP_005266484.1:p.Asp1334Ala
XM_005266428.1:c.3983A>C	XP_005266485.1:p.Asp1328Ala
XM_005266430.3:c.4235A>C	XP_005266487.1:p.Asp1412Ala
XM_005266431.2:c.4199A>C	XP_005266488.1:p.Asp1400Ala
XM_005266432.2:c.3749A>C	XP_005266489.1:p.Asp1250Ala
XM_006719837.2:c.4139A>C	XP_006719900.1:p.Asp1380Ala
XM_006719838.1:c.2051A>C	XP_006719901.1:p.Asp684Ala
XM_006719839.1:c.1868A>C	XP_006719902.1:p.Asp623Ala
XM_011535117.1:c.4139A>C	XP_011533419.1:p.Asp1380Ala
XM_011535118.1:c.4100A>C	XP_011533420.1:p.Asp1367Ala
XM_011535119.1:c.4052A>C	XP_011533421.1:p.Asp1351Ala
XM_011535120.1:c.3821A>C	XP_011533422.1:p.Asp1274Ala
XM_011535121.1:c.3722A>C	XP_011533423.1:p.Asp1241Ala
XM_011535122.1:c.2903A>C	XP_011533424.1:p.Asp968Ala
XR_941601.1:n.4454A>C
XR_941602.1:n.4454A>C
XR_941603.1:n.4454A>C
XR_941604.1:n.4454A>C
NM_001330578.1:c.4001A>C	NP_001317507.1:p.Asp1334Ala
NM_001330579.1:c.3983A>C	NP_001317508.1:p.Asp1328Ala
XM_005266424.4:c.4139A>C	XP_005266481.1:p.Asp1380Ala
XM_005266430.4:c.4235A>C	XP_005266487.1:p.Asp1412Ala
XM_005266431.4:c.4199A>C	XP_005266488.1:p.Asp1400Ala
XM_006719837.3:c.4139A>C	XP_006719900.1:p.Asp1380Ala
XM_011535117.3:c.4139A>C	XP_011533419.1:p.Asp1380Ala
XM_017020627.1:c.4139A>C	XP_016876116.1:p.Asp1380Ala
NM_000053.4:c.4235A>C MANE Select	NP_000044.2:p.Asp1412Ala
NM_001005918.3:c.3614A>C	NP_001005918.1:p.Asp1205Ala
NM_001330579.2:c.3983A>C	NP_001317508.1:p.Asp1328Ala
NM_001243182.2:c.3902A>C	NP_001230111.1:p.Asp1301Ala
NM_001330578.2:c.4001A>C	NP_001317507.1:p.Asp1334Ala