Canonical Allele Identifier: CA221154
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2989
dbSNP Id: rs120074124

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6391976T>C , CM000673.2:g.6391976T>C GRCh38
NC_000011.9:g.6413206T>C , CM000673.1:g.6413206T>C GRCh37
NC_000011.8:g.6369782T>C NCBI36
NG_011780.1:g.6552T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.911T>C MANE Select ENSP00000340409.4:p.Leu304Pro
ENST00000342245.8:c.911T>C ENSP00000340409.4:p.Leu304Pro
ENST00000526280.1:n.100T>C
ENST00000527275.5:c.908T>C ENSP00000435350.1:p.Leu303Pro
ENST00000530395.1:c.92T>C ENSP00000431479.1:p.Leu31Pro
ENST00000531303.5:c.438+473T>C ENSP00000432625.1:p.=
ENST00000533123.5:c.911T>C ENSP00000435950.1:p.Leu304Pro
ENST00000533196.1:n.375-30T>C
ENST00000534405.5:c.911T>C ENSP00000434353.1:p.Leu304Pro
NM_000543.4:c.911T>C NP_000534.3:p.Leu304Pro
NM_001007593.2:c.908T>C NP_001007594.2:p.Leu303Pro
XM_005253075.3:c.911T>C XP_005253132.1:p.Leu304Pro
XM_011520303.1:c.911T>C XP_011518605.1:p.Leu304Pro
XM_011520304.1:c.911T>C XP_011518606.1:p.Leu304Pro
XR_930886.1:n.1209T>C
NM_001318087.1:c.911T>C NP_001305016.1:p.Leu304Pro
NM_001318088.1:c.-51T>C NP_001305017.1:p.=
NM_001365135.1:c.911T>C NP_001352064.1:p.Leu304Pro
NR_027400.2:n.1096T>C
NR_134502.1:n.623+473T>C
XM_011520304.2:c.911T>C XP_011518606.1:p.Leu304Pro
XR_001747940.2:n.1036T>C
XR_002957158.1:n.1036T>C
NM_000543.5:c.911T>C MANE Select NP_000534.3:p.Leu304Pro
NM_001007593.3:c.908T>C NP_001007594.2:p.Leu303Pro
NM_001318087.2:c.911T>C NP_001305016.1:p.Leu304Pro
NM_001318088.2:c.-51T>C NP_001305017.1:p.=
NM_001365135.2:c.911T>C NP_001352064.1:p.Leu304Pro
NR_027400.3:n.1036T>C
NR_134502.2:n.563+473T>C