Canonical Allele Identifier: CA5852722

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 878122
• ClinVar RCV Id: RCV001104455 ; RCV002555022
• dbSNP Id: rs142476839
• ExAC: 11:6413286 C / T
• gnomAD v2: 11-6413286-C-T
• gnomAD v3: 11-6392056-C-T
• gnomAD v4: 11-6392056-C-T
• COSMIC: COSM415470 ; COSM415471
• MyVariant Identifiers: chr11:g.6413286C>T (hg19) ; chr11:g.6392056C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392056C>T , CM000673.2:g.6392056C>T	GRCh38
NC_000011.9:g.6413286C>T , CM000673.1:g.6413286C>T	GRCh37
NC_000011.8:g.6369862C>T	NCBI36
NG_011780.1:g.6632C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.991C>T MANE Select	ENSP00000340409.4:p.Pro331Ser
ENST00000342245.8:c.991C>T	ENSP00000340409.4:p.Pro331Ser
ENST00000526280.1:c.180C>T
ENST00000527275.5:c.988C>T	ENSP00000435350.1:p.Pro330Ser
ENST00000531303.5:c.438+553C>T	ENSP00000432625.1:n.438+553C>T
ENST00000533123.5:c.991C>T	ENSP00000435950.1:p.Pro331Ser
ENST00000533196.1:n.425C>T
ENST00000534405.5:c.991C>T	ENSP00000434353.1:p.Pro331Ser
NM_000543.4:c.991C>T	NP_000534.3:p.Pro331Ser
NM_001007593.2:c.988C>T	NP_001007594.2:p.Pro330Ser
XM_005253075.3:c.991C>T	XP_005253132.1:p.Pro331Ser
XM_011520303.1:c.991C>T	XP_011518605.1:p.Pro331Ser
XM_011520304.1:c.991C>T	XP_011518606.1:p.Pro331Ser
XR_930886.1:n.1289C>T
NM_001318087.1:c.991C>T	NP_001305016.1:p.Pro331Ser
NM_001318088.1:c.30C>T	NP_001305017.1:p.Leu10=
NM_001365135.1:c.991C>T	NP_001352064.1:p.Pro331Ser
NR_027400.2:n.1176C>T
NR_134502.1:n.623+553C>T
XM_011520304.2:c.991C>T	XP_011518606.1:p.Pro331Ser
XR_001747940.2:n.1116C>T
XR_002957158.1:n.1116C>T
NM_000543.5:c.991C>T MANE Select	NP_000534.3:p.Pro331Ser
NM_001007593.3:c.988C>T	NP_001007594.2:p.Pro330Ser
NM_001318087.2:c.991C>T	NP_001305016.1:p.Pro331Ser
NM_001318088.2:c.30C>T	NP_001305017.1:p.Leu10=
NM_001365135.2:c.991C>T	NP_001352064.1:p.Pro331Ser
NR_027400.3:n.1116C>T
NR_134502.2:n.563+553C>T