Canonical Allele Identifier: CA9729313
Gene: SIRPG HGNC NCBI

Linked Data

dbSNP Id: rs35062363
gnomAD v2: 20-1610931-G-A
gnomAD v3: 20-1630285-G-A
gnomAD v4: 20-1630285-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.1630285G>A , CM000682.2:g.1630285G>A GRCh38
NC_000020.10:g.1610931G>A , CM000682.1:g.1610931G>A GRCh37
NC_000020.9:g.1558931G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000216927.4:c.770C>T ENSP00000216927.4:p.Ala257Val
ENST00000303415.7:c.1103C>T MANE Select ENSP00000305529.3:p.Ala368Val
ENST00000344103.8:c.452C>T ENSP00000342759.4:p.Ala151Val
ENST00000381580.5:c.1004C>T ENSP00000370992.1:p.Ala335Val
ENST00000381583.6:c.770C>T ENSP00000370995.2:p.Ala257Val
ENST00000478145.6:n.164C>T
ENST00000497407.2:n.252C>T
NM_001039508.1:c.770C>T NP_001034597.1:p.Ala257Val
NM_018556.3:c.1103C>T NP_061026.2:p.Ala368Val
NM_080816.2:c.452C>T NP_543006.2:p.Ala151Val
XM_005260749.2:c.785C>T XP_005260806.1:p.Ala262Val
XM_011529286.1:c.1004C>T XP_011527588.1:p.Ala335Val
XM_005260749.4:c.785C>T XP_005260806.1:p.Ala262Val
XM_011529286.2:c.1004C>T XP_011527588.1:p.Ala335Val
NM_018556.4:c.1103C>T MANE Select NP_061026.2:p.Ala368Val
NM_080816.3:c.452C>T NP_543006.2:p.Ala151Val
NM_001039508.2:c.770C>T NP_001034597.1:p.Ala257Val