Canonical Allele Identifier: CA9729317
Gene: SIRPG HGNC NCBI

Linked Data

dbSNP Id: rs777894070
gnomAD v2: 20-1610949-G-A
gnomAD v3: 20-1630303-G-A
gnomAD v4: 20-1630303-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.1630303G>A , CM000682.2:g.1630303G>A GRCh38
NC_000020.10:g.1610949G>A , CM000682.1:g.1610949G>A GRCh37
NC_000020.9:g.1558949G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000216927.4:c.752C>T ENSP00000216927.4:p.Pro251Leu
ENST00000303415.7:c.1085C>T MANE Select ENSP00000305529.3:p.Pro362Leu
ENST00000344103.8:c.434C>T ENSP00000342759.4:p.Pro145Leu
ENST00000381580.5:c.986C>T ENSP00000370992.1:p.Pro329Leu
ENST00000381583.6:c.752C>T ENSP00000370995.2:p.Pro251Leu
ENST00000478145.6:n.146C>T
ENST00000497407.2:n.234C>T
NM_001039508.1:c.752C>T NP_001034597.1:p.Pro251Leu
NM_018556.3:c.1085C>T NP_061026.2:p.Pro362Leu
NM_080816.2:c.434C>T NP_543006.2:p.Pro145Leu
XM_005260749.2:c.767C>T XP_005260806.1:p.Pro256Leu
XM_011529286.1:c.986C>T XP_011527588.1:p.Pro329Leu
XM_005260749.4:c.767C>T XP_005260806.1:p.Pro256Leu
XM_011529286.2:c.986C>T XP_011527588.1:p.Pro329Leu
NM_018556.4:c.1085C>T MANE Select NP_061026.2:p.Pro362Leu
NM_080816.3:c.434C>T NP_543006.2:p.Pro145Leu
NM_001039508.2:c.752C>T NP_001034597.1:p.Pro251Leu