Canonical Allele Identifier: CA388021135

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511490T>G (hg19) ; chr13:g.51937354T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937354T>G , CM000675.2:g.51937354T>G	GRCh38
NC_000013.10:g.52511490T>G , CM000675.1:g.52511490T>G	GRCh37
NC_000013.9:g.51409491T>G	NCBI36
NG_008806.1:g.79141A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1593A>C	ENSP00000489512.2:n.*1593A>C
ENST00000673864.2:c.*2687A>C	ENSP00000501045.2:n.*2687A>C
ENST00000674147.2:c.3322A>C	ENSP00000500964.2:p.Lys1108Gln
ENST00000242839.10:c.3943A>C MANE Select	ENSP00000242839.5:p.Lys1315Gln
ENST00000344297.9:c.3322A>C	ENSP00000342559.5:p.Lys1108Gln
ENST00000400366.6:c.3610A>C	ENSP00000383217.3:p.Lys1204Gln
ENST00000448424.7:c.3691A>C	ENSP00000416738.3:p.Lys1231Gln
ENST00000673696.1:n.1266A>C
ENST00000673772.1:c.3709A>C	ENSP00000501168.1:p.Lys1237Gln
ENST00000673867.1:n.4082A>C
ENST00000673923.1:n.809A>C
ENST00000674147.1:c.2878A>C	ENSP00000500964.1:p.Lys960Gln
ENST00000242839.8:c.3943A>C	ENSP00000242839.4:p.Lys1315Gln
ENST00000344297.8:c.3322A>C	ENSP00000342559.5:p.Lys1108Gln
ENST00000400366.5:c.3610A>C	ENSP00000383217.3:p.Lys1204Gln
ENST00000400370.8:c.2653A>C	ENSP00000383221.3:p.Lys885Gln
ENST00000418097.7:c.3748A>C	ENSP00000393343.2:p.Lys1250Gln
ENST00000448424.6:c.3709A>C	ENSP00000416738.2:p.Lys1237Gln
ENST00000634296.1:c.1721A>C
ENST00000634308.1:c.*1044A>C	ENSP00000489234.1:n.*1044A>C
ENST00000634620.1:n.4687A>C
ENST00000634810.1:n.3288A>C
ENST00000634844.1:c.3799A>C	ENSP00000489398.1:p.Lys1267Gln
NM_000053.3:c.3943A>C	NP_000044.2:p.Lys1315Gln
NM_001005918.2:c.3322A>C	NP_001005918.1:p.Lys1108Gln
NM_001243182.1:c.3610A>C	NP_001230111.1:p.Lys1204Gln
XM_005266423.2:c.3847A>C	XP_005266480.1:p.Lys1283Gln
XM_005266424.3:c.3847A>C	XP_005266481.1:p.Lys1283Gln
XM_005266427.2:c.3709A>C	XP_005266484.1:p.Lys1237Gln
XM_005266428.1:c.3691A>C	XP_005266485.1:p.Lys1231Gln
XM_005266430.3:c.3943A>C	XP_005266487.1:p.Lys1315Gln
XM_005266431.2:c.3907A>C	XP_005266488.1:p.Lys1303Gln
XM_005266432.2:c.3457A>C	XP_005266489.1:p.Lys1153Gln
XM_006719837.2:c.3847A>C	XP_006719900.1:p.Lys1283Gln
XM_006719838.1:c.1759A>C	XP_006719901.1:p.Lys587Gln
XM_006719839.1:c.1576A>C	XP_006719902.1:p.Lys526Gln
XM_011535117.1:c.3847A>C	XP_011533419.1:p.Lys1283Gln
XM_011535118.1:c.3808A>C	XP_011533420.1:p.Lys1270Gln
XM_011535119.1:c.3760A>C	XP_011533421.1:p.Lys1254Gln
XM_011535120.1:c.3529A>C	XP_011533422.1:p.Lys1177Gln
XM_011535121.1:c.3430A>C	XP_011533423.1:p.Lys1144Gln
XM_011535122.1:c.2611A>C	XP_011533424.1:p.Lys871Gln
XR_941601.1:n.4162A>C
XR_941602.1:n.4162A>C
XR_941603.1:n.4162A>C
XR_941604.1:n.4162A>C
NM_001330578.1:c.3709A>C	NP_001317507.1:p.Lys1237Gln
NM_001330579.1:c.3691A>C	NP_001317508.1:p.Lys1231Gln
XM_005266424.4:c.3847A>C	XP_005266481.1:p.Lys1283Gln
XM_005266430.4:c.3943A>C	XP_005266487.1:p.Lys1315Gln
XM_005266431.4:c.3907A>C	XP_005266488.1:p.Lys1303Gln
XM_006719837.3:c.3847A>C	XP_006719900.1:p.Lys1283Gln
XM_011535117.3:c.3847A>C	XP_011533419.1:p.Lys1283Gln
XM_017020627.1:c.3847A>C	XP_016876116.1:p.Lys1283Gln
NM_000053.4:c.3943A>C MANE Select	NP_000044.2:p.Lys1315Gln
NM_001005918.3:c.3322A>C	NP_001005918.1:p.Lys1108Gln
NM_001330579.2:c.3691A>C	NP_001317508.1:p.Lys1231Gln
NM_001243182.2:c.3610A>C	NP_001230111.1:p.Lys1204Gln
NM_001330578.2:c.3709A>C	NP_001317507.1:p.Lys1237Gln