Canonical Allele Identifier: CA217299813

Gene: SMPD1

Linked Data

• dbSNP Id: rs1003775121
• gnomAD v4: 11-6392180-A-G
• MyVariant Identifiers: chr11:g.6413410A>G (hg19) ; chr11:g.6392180A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392180A>G , CM000673.2:g.6392180A>G	GRCh38
NC_000011.9:g.6413410A>G , CM000673.1:g.6413410A>G	GRCh37
NC_000011.8:g.6369986A>G	NCBI36
NG_011780.1:g.6756A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+24A>G MANE Select	ENSP00000340409.4:n.1091+24A>G
ENST00000342245.8:c.1091+24A>G	ENSP00000340409.4:n.1091+24A>G
ENST00000526280.1:c.304A>G
ENST00000527275.5:c.1088+24A>G	ENSP00000435350.1:n.1088+24A>G
ENST00000531303.5:c.438+677A>G	ENSP00000432625.1:n.438+677A>G
ENST00000533123.5:c.1091+24A>G	ENSP00000435950.1:n.1091+24A>G
ENST00000534405.5:c.1115A>G	ENSP00000434353.1:p.Gln372Arg
NM_000543.4:c.1091+24A>G	NP_000534.3:n.1091+24A>G
NM_001007593.2:c.1088+24A>G	NP_001007594.2:n.1088+24A>G
XM_005253075.3:c.1091+24A>G	XP_005253132.1:n.1091+24A>G
XM_011520303.1:c.1115A>G	XP_011518605.1:p.Gln372Arg
XM_011520304.1:c.1115A>G	XP_011518606.1:p.Gln372Arg
XR_930886.1:n.1413A>G
NM_001318087.1:c.1091+24A>G	NP_001305016.1:n.1091+24A>G
NM_001318088.1:c.154A>G	NP_001305017.1:p.Arg52Gly
NM_001365135.1:c.1115A>G	NP_001352064.1:p.Gln372Arg
NR_027400.2:n.1276+24A>G
NR_134502.1:n.623+677A>G
XM_011520304.2:c.1115A>G	XP_011518606.1:p.Gln372Arg
XR_001747940.2:n.1240A>G
XR_002957158.1:n.1240A>G
NM_000543.5:c.1091+24A>G MANE Select	NP_000534.3:n.1091+24A>G
NM_001007593.3:c.1088+24A>G	NP_001007594.2:n.1088+24A>G
NM_001318087.2:c.1091+24A>G	NP_001305016.1:n.1091+24A>G
NM_001318088.2:c.154A>G	NP_001305017.1:p.Arg52Gly
NM_001365135.2:c.1115A>G	NP_001352064.1:p.Gln372Arg
NR_027400.3:n.1216+24A>G
NR_134502.2:n.563+677A>G