Canonical Allele Identifier: CA407998442
Gene: SIRPG HGNC NCBI

Linked Data

dbSNP Id: rs1213068429
gnomAD v3: 20-1630240-C-A
gnomAD v4: 20-1630240-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.1630240C>A , CM000682.2:g.1630240C>A GRCh38
NC_000020.10:g.1610886C>A , CM000682.1:g.1610886C>A GRCh37
NC_000020.9:g.1558886C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000216927.4:c.815G>T ENSP00000216927.4:p.Trp272Leu
ENST00000303415.7:c.1148G>T MANE Select ENSP00000305529.3:p.Trp383Leu
ENST00000344103.8:c.497G>T ENSP00000342759.4:p.Trp166Leu
ENST00000381580.5:c.1049G>T ENSP00000370992.1:p.Trp350Leu
ENST00000381583.6:c.815G>T ENSP00000370995.2:p.Trp272Leu
ENST00000478145.6:n.209G>T
ENST00000497407.2:n.297G>T
NM_001039508.1:c.815G>T NP_001034597.1:p.Trp272Leu
NM_018556.3:c.1148G>T NP_061026.2:p.Trp383Leu
NM_080816.2:c.497G>T NP_543006.2:p.Trp166Leu
XM_005260749.2:c.830G>T XP_005260806.1:p.Trp277Leu
XM_011529286.1:c.1049G>T XP_011527588.1:p.Trp350Leu
XM_005260749.4:c.830G>T XP_005260806.1:p.Trp277Leu
XM_011529286.2:c.1049G>T XP_011527588.1:p.Trp350Leu
NM_018556.4:c.1148G>T MANE Select NP_061026.2:p.Trp383Leu
NM_080816.3:c.497G>T NP_543006.2:p.Trp166Leu
NM_001039508.2:c.815G>T NP_001034597.1:p.Trp272Leu