Canonical Allele Identifier: CA388029883

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1069926
• ClinVar RCV Id: RCV001381921
• dbSNP Id: rs201738147
• MyVariant Identifiers: chr13:g.52518282T>C (hg19) ; chr13:g.51944146T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944146T>C , CM000675.2:g.51944146T>C	GRCh38
NC_000013.10:g.52518282T>C , CM000675.1:g.52518282T>C	GRCh37
NC_000013.9:g.51416283T>C	NCBI36
NG_008806.1:g.72349A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1592A>G	ENSP00000489512.2:n.*894-1592A>G
ENST00000673864.2:c.*1950A>G	ENSP00000501045.2:n.*1950A>G
ENST00000674147.2:c.2585A>G	ENSP00000500964.2:p.His862Arg
ENST00000242839.10:c.3206A>G MANE Select	ENSP00000242839.5:p.His1069Arg
ENST00000344297.9:c.2585A>G	ENSP00000342559.5:p.His862Arg
ENST00000400366.6:c.2873A>G	ENSP00000383217.3:p.His958Arg
ENST00000448424.7:c.2954A>G	ENSP00000416738.3:p.His985Arg
ENST00000673772.1:c.2972A>G	ENSP00000501168.1:p.His991Arg
ENST00000673867.1:n.3345A>G
ENST00000674126.1:n.3569A>G
ENST00000674147.1:c.2141A>G	ENSP00000500964.1:p.His714Arg
ENST00000242839.8:c.3206A>G	ENSP00000242839.4:p.His1069Arg
ENST00000344297.8:c.2585A>G	ENSP00000342559.5:p.His862Arg
ENST00000400366.5:c.2873A>G	ENSP00000383217.3:p.His958Arg
ENST00000400370.8:c.1916A>G	ENSP00000383221.3:p.His639Arg
ENST00000418097.7:c.3011A>G	ENSP00000393343.2:p.His1004Arg
ENST00000448424.6:c.2972A>G	ENSP00000416738.2:p.His991Arg
ENST00000466629.1:n.426A>G
ENST00000634296.1:c.1022-1592A>G
ENST00000634308.1:c.*307A>G	ENSP00000489234.1:n.*307A>G
ENST00000634620.1:n.3950A>G
ENST00000634810.1:n.2551A>G
ENST00000634844.1:c.3062A>G	ENSP00000489398.1:p.His1021Arg
NM_000053.3:c.3206A>G	NP_000044.2:p.His1069Arg
NM_001005918.2:c.2585A>G	NP_001005918.1:p.His862Arg
NM_001243182.1:c.2873A>G	NP_001230111.1:p.His958Arg
XM_005266423.2:c.3110A>G	XP_005266480.1:p.His1037Arg
XM_005266424.3:c.3110A>G	XP_005266481.1:p.His1037Arg
XM_005266427.2:c.2972A>G	XP_005266484.1:p.His991Arg
XM_005266428.1:c.2954A>G	XP_005266485.1:p.His985Arg
XM_005266430.3:c.3206A>G	XP_005266487.1:p.His1069Arg
XM_005266431.2:c.3170A>G	XP_005266488.1:p.His1057Arg
XM_005266432.2:c.2720A>G	XP_005266489.1:p.His907Arg
XM_006719837.2:c.3110A>G	XP_006719900.1:p.His1037Arg
XM_006719838.1:c.1022A>G	XP_006719901.1:p.His341Arg
XM_006719839.1:c.877-1592A>G	XP_006719902.1:n.877-1592A>G
XM_011535117.1:c.3110A>G	XP_011533419.1:p.His1037Arg
XM_011535118.1:c.3071A>G	XP_011533420.1:p.His1024Arg
XM_011535119.1:c.3061-1592A>G	XP_011533421.1:n.3061-1592A>G
XM_011535120.1:c.2792A>G	XP_011533422.1:p.His931Arg
XM_011535121.1:c.2731-1592A>G	XP_011533423.1:n.2731-1592A>G
XM_011535122.1:c.1874A>G	XP_011533424.1:p.His625Arg
XR_941601.1:n.3425A>G
XR_941602.1:n.3425A>G
XR_941603.1:n.3425A>G
XR_941604.1:n.3425A>G
NM_001330578.1:c.2972A>G	NP_001317507.1:p.His991Arg
NM_001330579.1:c.2954A>G	NP_001317508.1:p.His985Arg
XM_005266424.4:c.3110A>G	XP_005266481.1:p.His1037Arg
XM_005266430.4:c.3206A>G	XP_005266487.1:p.His1069Arg
XM_005266431.4:c.3170A>G	XP_005266488.1:p.His1057Arg
XM_006719837.3:c.3110A>G	XP_006719900.1:p.His1037Arg
XM_011535117.3:c.3110A>G	XP_011533419.1:p.His1037Arg
XM_017020627.1:c.3110A>G	XP_016876116.1:p.His1037Arg
NM_000053.4:c.3206A>G MANE Select	NP_000044.2:p.His1069Arg
NM_001005918.3:c.2585A>G	NP_001005918.1:p.His862Arg
NM_001330579.2:c.2954A>G	NP_001317508.1:p.His985Arg
NM_001243182.2:c.2873A>G	NP_001230111.1:p.His958Arg
NM_001330578.2:c.2972A>G	NP_001317507.1:p.His991Arg