Canonical Allele Identifier: CA388029911

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518286C>G (hg19) ; chr13:g.51944150C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944150C>G , CM000675.2:g.51944150C>G	GRCh38
NC_000013.10:g.52518286C>G , CM000675.1:g.52518286C>G	GRCh37
NC_000013.9:g.51416287C>G	NCBI36
NG_008806.1:g.72345G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1596G>C	ENSP00000489512.2:n.*894-1596G>C
ENST00000673864.2:c.*1946G>C	ENSP00000501045.2:n.*1946G>C
ENST00000674147.2:c.2581G>C	ENSP00000500964.2:p.Glu861Gln
ENST00000242839.10:c.3202G>C MANE Select	ENSP00000242839.5:p.Glu1068Gln
ENST00000344297.9:c.2581G>C	ENSP00000342559.5:p.Glu861Gln
ENST00000400366.6:c.2869G>C	ENSP00000383217.3:p.Glu957Gln
ENST00000448424.7:c.2950G>C	ENSP00000416738.3:p.Glu984Gln
ENST00000673772.1:c.2968G>C	ENSP00000501168.1:p.Glu990Gln
ENST00000673867.1:n.3341G>C
ENST00000674126.1:n.3565G>C
ENST00000674147.1:c.2137G>C	ENSP00000500964.1:p.Glu713Gln
ENST00000242839.8:c.3202G>C	ENSP00000242839.4:p.Glu1068Gln
ENST00000344297.8:c.2581G>C	ENSP00000342559.5:p.Glu861Gln
ENST00000400366.5:c.2869G>C	ENSP00000383217.3:p.Glu957Gln
ENST00000400370.8:c.1912G>C	ENSP00000383221.3:p.Glu638Gln
ENST00000418097.7:c.3007G>C	ENSP00000393343.2:p.Glu1003Gln
ENST00000448424.6:c.2968G>C	ENSP00000416738.2:p.Glu990Gln
ENST00000466629.1:n.422G>C
ENST00000634296.1:c.1022-1596G>C
ENST00000634308.1:c.*303G>C	ENSP00000489234.1:n.*303G>C
ENST00000634620.1:n.3946G>C
ENST00000634810.1:n.2547G>C
ENST00000634844.1:c.3058G>C	ENSP00000489398.1:p.Glu1020Gln
NM_000053.3:c.3202G>C	NP_000044.2:p.Glu1068Gln
NM_001005918.2:c.2581G>C	NP_001005918.1:p.Glu861Gln
NM_001243182.1:c.2869G>C	NP_001230111.1:p.Glu957Gln
XM_005266423.2:c.3106G>C	XP_005266480.1:p.Glu1036Gln
XM_005266424.3:c.3106G>C	XP_005266481.1:p.Glu1036Gln
XM_005266427.2:c.2968G>C	XP_005266484.1:p.Glu990Gln
XM_005266428.1:c.2950G>C	XP_005266485.1:p.Glu984Gln
XM_005266430.3:c.3202G>C	XP_005266487.1:p.Glu1068Gln
XM_005266431.2:c.3166G>C	XP_005266488.1:p.Glu1056Gln
XM_005266432.2:c.2716G>C	XP_005266489.1:p.Glu906Gln
XM_006719837.2:c.3106G>C	XP_006719900.1:p.Glu1036Gln
XM_006719838.1:c.1018G>C	XP_006719901.1:p.Glu340Gln
XM_006719839.1:c.877-1596G>C	XP_006719902.1:n.877-1596G>C
XM_011535117.1:c.3106G>C	XP_011533419.1:p.Glu1036Gln
XM_011535118.1:c.3067G>C	XP_011533420.1:p.Glu1023Gln
XM_011535119.1:c.3061-1596G>C	XP_011533421.1:n.3061-1596G>C
XM_011535120.1:c.2788G>C	XP_011533422.1:p.Glu930Gln
XM_011535121.1:c.2731-1596G>C	XP_011533423.1:n.2731-1596G>C
XM_011535122.1:c.1870G>C	XP_011533424.1:p.Glu624Gln
XR_941601.1:n.3421G>C
XR_941602.1:n.3421G>C
XR_941603.1:n.3421G>C
XR_941604.1:n.3421G>C
NM_001330578.1:c.2968G>C	NP_001317507.1:p.Glu990Gln
NM_001330579.1:c.2950G>C	NP_001317508.1:p.Glu984Gln
XM_005266424.4:c.3106G>C	XP_005266481.1:p.Glu1036Gln
XM_005266430.4:c.3202G>C	XP_005266487.1:p.Glu1068Gln
XM_005266431.4:c.3166G>C	XP_005266488.1:p.Glu1056Gln
XM_006719837.3:c.3106G>C	XP_006719900.1:p.Glu1036Gln
XM_011535117.3:c.3106G>C	XP_011533419.1:p.Glu1036Gln
XM_017020627.1:c.3106G>C	XP_016876116.1:p.Glu1036Gln
NM_000053.4:c.3202G>C MANE Select	NP_000044.2:p.Glu1068Gln
NM_001005918.3:c.2581G>C	NP_001005918.1:p.Glu861Gln
NM_001330579.2:c.2950G>C	NP_001317508.1:p.Glu984Gln
NM_001243182.2:c.2869G>C	NP_001230111.1:p.Glu957Gln
NM_001330578.2:c.2968G>C	NP_001317507.1:p.Glu990Gln