Canonical Allele Identifier: CA250080082

Gene: ATP7B

Linked Data

• dbSNP Id: rs1001437239
• gnomAD v4: 13-51944147-G-A
• MyVariant Identifiers: chr13:g.52518283G>A (hg19) ; chr13:g.51944147G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944147G>A , CM000675.2:g.51944147G>A	GRCh38
NC_000013.10:g.52518283G>A , CM000675.1:g.52518283G>A	GRCh37
NC_000013.9:g.51416284G>A	NCBI36
NG_008806.1:g.72348C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1593C>T	ENSP00000489512.2:n.*894-1593C>T
ENST00000673864.2:c.*1949C>T	ENSP00000501045.2:n.*1949C>T
ENST00000674147.2:c.2584C>T	ENSP00000500964.2:p.His862Tyr
ENST00000242839.10:c.3205C>T MANE Select	ENSP00000242839.5:p.His1069Tyr
ENST00000344297.9:c.2584C>T	ENSP00000342559.5:p.His862Tyr
ENST00000400366.6:c.2872C>T	ENSP00000383217.3:p.His958Tyr
ENST00000448424.7:c.2953C>T	ENSP00000416738.3:p.His985Tyr
ENST00000673772.1:c.2971C>T	ENSP00000501168.1:p.His991Tyr
ENST00000673867.1:n.3344C>T
ENST00000674126.1:n.3568C>T
ENST00000674147.1:c.2140C>T	ENSP00000500964.1:p.His714Tyr
ENST00000242839.8:c.3205C>T	ENSP00000242839.4:p.His1069Tyr
ENST00000344297.8:c.2584C>T	ENSP00000342559.5:p.His862Tyr
ENST00000400366.5:c.2872C>T	ENSP00000383217.3:p.His958Tyr
ENST00000400370.8:c.1915C>T	ENSP00000383221.3:p.His639Tyr
ENST00000418097.7:c.3010C>T	ENSP00000393343.2:p.His1004Tyr
ENST00000448424.6:c.2971C>T	ENSP00000416738.2:p.His991Tyr
ENST00000466629.1:n.425C>T
ENST00000634296.1:c.1022-1593C>T
ENST00000634308.1:c.*306C>T	ENSP00000489234.1:n.*306C>T
ENST00000634620.1:n.3949C>T
ENST00000634810.1:n.2550C>T
ENST00000634844.1:c.3061C>T	ENSP00000489398.1:p.His1021Tyr
NM_000053.3:c.3205C>T	NP_000044.2:p.His1069Tyr
NM_001005918.2:c.2584C>T	NP_001005918.1:p.His862Tyr
NM_001243182.1:c.2872C>T	NP_001230111.1:p.His958Tyr
XM_005266423.2:c.3109C>T	XP_005266480.1:p.His1037Tyr
XM_005266424.3:c.3109C>T	XP_005266481.1:p.His1037Tyr
XM_005266427.2:c.2971C>T	XP_005266484.1:p.His991Tyr
XM_005266428.1:c.2953C>T	XP_005266485.1:p.His985Tyr
XM_005266430.3:c.3205C>T	XP_005266487.1:p.His1069Tyr
XM_005266431.2:c.3169C>T	XP_005266488.1:p.His1057Tyr
XM_005266432.2:c.2719C>T	XP_005266489.1:p.His907Tyr
XM_006719837.2:c.3109C>T	XP_006719900.1:p.His1037Tyr
XM_006719838.1:c.1021C>T	XP_006719901.1:p.His341Tyr
XM_006719839.1:c.877-1593C>T	XP_006719902.1:n.877-1593C>T
XM_011535117.1:c.3109C>T	XP_011533419.1:p.His1037Tyr
XM_011535118.1:c.3070C>T	XP_011533420.1:p.His1024Tyr
XM_011535119.1:c.3061-1593C>T	XP_011533421.1:n.3061-1593C>T
XM_011535120.1:c.2791C>T	XP_011533422.1:p.His931Tyr
XM_011535121.1:c.2731-1593C>T	XP_011533423.1:n.2731-1593C>T
XM_011535122.1:c.1873C>T	XP_011533424.1:p.His625Tyr
XR_941601.1:n.3424C>T
XR_941602.1:n.3424C>T
XR_941603.1:n.3424C>T
XR_941604.1:n.3424C>T
NM_001330578.1:c.2971C>T	NP_001317507.1:p.His991Tyr
NM_001330579.1:c.2953C>T	NP_001317508.1:p.His985Tyr
XM_005266424.4:c.3109C>T	XP_005266481.1:p.His1037Tyr
XM_005266430.4:c.3205C>T	XP_005266487.1:p.His1069Tyr
XM_005266431.4:c.3169C>T	XP_005266488.1:p.His1057Tyr
XM_006719837.3:c.3109C>T	XP_006719900.1:p.His1037Tyr
XM_011535117.3:c.3109C>T	XP_011533419.1:p.His1037Tyr
XM_017020627.1:c.3109C>T	XP_016876116.1:p.His1037Tyr
NM_000053.4:c.3205C>T MANE Select	NP_000044.2:p.His1069Tyr
NM_001005918.3:c.2584C>T	NP_001005918.1:p.His862Tyr
NM_001330579.2:c.2953C>T	NP_001317508.1:p.His985Tyr
NM_001243182.2:c.2872C>T	NP_001230111.1:p.His958Tyr
NM_001330578.2:c.2971C>T	NP_001317507.1:p.His991Tyr