Canonical Allele Identifier: CA9729310
Gene: SIRPG HGNC NCBI

Linked Data

dbSNP Id: rs148760823
gnomAD v2: 20-1610921-G-A
gnomAD v3: 20-1630275-G-A
gnomAD v4: 20-1630275-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.1630275G>A , CM000682.2:g.1630275G>A GRCh38
NC_000020.10:g.1610921G>A , CM000682.1:g.1610921G>A GRCh37
NC_000020.9:g.1558921G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000216927.4:c.780C>T ENSP00000216927.4:p.Leu260=
ENST00000303415.7:c.1113C>T MANE Select ENSP00000305529.3:p.Leu371=
ENST00000344103.8:c.462C>T ENSP00000342759.4:p.Leu154=
ENST00000381580.5:c.1014C>T ENSP00000370992.1:p.Leu338=
ENST00000381583.6:c.780C>T ENSP00000370995.2:p.Leu260=
ENST00000478145.6:n.174C>T
ENST00000497407.2:n.262C>T
NM_001039508.1:c.780C>T NP_001034597.1:p.Leu260=
NM_018556.3:c.1113C>T NP_061026.2:p.Leu371=
NM_080816.2:c.462C>T NP_543006.2:p.Leu154=
XM_005260749.2:c.795C>T XP_005260806.1:p.Leu265=
XM_011529286.1:c.1014C>T XP_011527588.1:p.Leu338=
XM_005260749.4:c.795C>T XP_005260806.1:p.Leu265=
XM_011529286.2:c.1014C>T XP_011527588.1:p.Leu338=
NM_018556.4:c.1113C>T MANE Select NP_061026.2:p.Leu371=
NM_080816.3:c.462C>T NP_543006.2:p.Leu154=
NM_001039508.2:c.780C>T NP_001034597.1:p.Leu260=