Canonical Allele Identifier: CA250071636

Gene: ATP7B

Linked Data

• dbSNP Id: rs559705781
• gnomAD v2: 13-52509059-G-A
• gnomAD v3: 13-51934923-G-A
• gnomAD v4: 13-51934923-G-A
• COSMIC: COSM69769
• MyVariant Identifiers: chr13:g.52509059G>A (hg19) ; chr13:g.51934923G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51934923G>A , CM000675.2:g.51934923G>A	GRCh38
NC_000013.10:g.52509059G>A , CM000675.1:g.52509059G>A	GRCh37
NC_000013.9:g.51407060G>A	NCBI36
NG_008806.1:g.81572C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1881C>T	ENSP00000489512.2:n.*1881C>T
ENST00000673864.2:c.*2975C>T	ENSP00000501045.2:n.*2975C>T
ENST00000674147.2:c.3610C>T	ENSP00000500964.2:p.Arg1204Trp
ENST00000242839.10:c.4231C>T MANE Select	ENSP00000242839.5:p.Arg1411Trp
ENST00000344297.9:c.3610C>T	ENSP00000342559.5:p.Arg1204Trp
ENST00000400366.6:c.3898C>T	ENSP00000383217.3:p.Arg1300Trp
ENST00000448424.7:c.3979C>T	ENSP00000416738.3:p.Arg1327Trp
ENST00000673696.1:n.1554C>T
ENST00000673772.1:c.3997C>T	ENSP00000501168.1:p.Arg1333Trp
ENST00000673867.1:n.4370C>T
ENST00000673923.1:n.1097C>T
ENST00000674147.1:c.3166C>T	ENSP00000500964.1:p.Arg1056Trp
ENST00000242839.8:c.4231C>T	ENSP00000242839.4:p.Arg1411Trp
ENST00000344297.8:c.3610C>T	ENSP00000342559.5:p.Arg1204Trp
ENST00000400366.5:c.3898C>T	ENSP00000383217.3:p.Arg1300Trp
ENST00000400370.8:c.2941C>T	ENSP00000383221.3:p.Arg981Trp
ENST00000418097.7:c.4036C>T	ENSP00000393343.2:p.Arg1346Trp
ENST00000448424.6:c.3997C>T	ENSP00000416738.2:p.Arg1333Trp
ENST00000634296.1:c.2009C>T
ENST00000634308.1:c.*1332C>T	ENSP00000489234.1:n.*1332C>T
ENST00000634620.1:n.4975C>T
ENST00000634810.1:n.3576C>T
ENST00000634844.1:c.4087C>T	ENSP00000489398.1:p.Arg1363Trp
NM_000053.3:c.4231C>T	NP_000044.2:p.Arg1411Trp
NM_001005918.2:c.3610C>T	NP_001005918.1:p.Arg1204Trp
NM_001243182.1:c.3898C>T	NP_001230111.1:p.Arg1300Trp
XM_005266423.2:c.4135C>T	XP_005266480.1:p.Arg1379Trp
XM_005266424.3:c.4135C>T	XP_005266481.1:p.Arg1379Trp
XM_005266427.2:c.3997C>T	XP_005266484.1:p.Arg1333Trp
XM_005266428.1:c.3979C>T	XP_005266485.1:p.Arg1327Trp
XM_005266430.3:c.4231C>T	XP_005266487.1:p.Arg1411Trp
XM_005266431.2:c.4195C>T	XP_005266488.1:p.Arg1399Trp
XM_005266432.2:c.3745C>T	XP_005266489.1:p.Arg1249Trp
XM_006719837.2:c.4135C>T	XP_006719900.1:p.Arg1379Trp
XM_006719838.1:c.2047C>T	XP_006719901.1:p.Arg683Trp
XM_006719839.1:c.1864C>T	XP_006719902.1:p.Arg622Trp
XM_011535117.1:c.4135C>T	XP_011533419.1:p.Arg1379Trp
XM_011535118.1:c.4096C>T	XP_011533420.1:p.Arg1366Trp
XM_011535119.1:c.4048C>T	XP_011533421.1:p.Arg1350Trp
XM_011535120.1:c.3817C>T	XP_011533422.1:p.Arg1273Trp
XM_011535121.1:c.3718C>T	XP_011533423.1:p.Arg1240Trp
XM_011535122.1:c.2899C>T	XP_011533424.1:p.Arg967Trp
XR_941601.1:n.4450C>T
XR_941602.1:n.4450C>T
XR_941603.1:n.4450C>T
XR_941604.1:n.4450C>T
NM_001330578.1:c.3997C>T	NP_001317507.1:p.Arg1333Trp
NM_001330579.1:c.3979C>T	NP_001317508.1:p.Arg1327Trp
XM_005266424.4:c.4135C>T	XP_005266481.1:p.Arg1379Trp
XM_005266430.4:c.4231C>T	XP_005266487.1:p.Arg1411Trp
XM_005266431.4:c.4195C>T	XP_005266488.1:p.Arg1399Trp
XM_006719837.3:c.4135C>T	XP_006719900.1:p.Arg1379Trp
XM_011535117.3:c.4135C>T	XP_011533419.1:p.Arg1379Trp
XM_017020627.1:c.4135C>T	XP_016876116.1:p.Arg1379Trp
NM_000053.4:c.4231C>T MANE Select	NP_000044.2:p.Arg1411Trp
NM_001005918.3:c.3610C>T	NP_001005918.1:p.Arg1204Trp
NM_001330579.2:c.3979C>T	NP_001317508.1:p.Arg1327Trp
NM_001243182.2:c.3898C>T	NP_001230111.1:p.Arg1300Trp
NM_001330578.2:c.3997C>T	NP_001317507.1:p.Arg1333Trp