Canonical Allele Identifier: CA217299369

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1433923
• ClinVar RCV Id: RCV001984492
• dbSNP Id: rs936971458
• MyVariant Identifiers: chr11:g.6412734G>A (hg19) ; chr11:g.6391504G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391504G>A , CM000673.2:g.6391504G>A	GRCh38
NC_000011.9:g.6412734G>A , CM000673.1:g.6412734G>A	GRCh37
NC_000011.8:g.6369310G>A	NCBI36
NG_011780.1:g.6080G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.439G>A MANE Select	ENSP00000340409.4:p.Val147Met
ENST00000342245.8:c.439G>A	ENSP00000340409.4:p.Val147Met
ENST00000527275.5:c.436G>A	ENSP00000435350.1:p.Val146Met
ENST00000530395.1:c.-95-286G>A	ENSP00000431479.1:n.-95-286G>A
ENST00000531303.5:c.438+1G>A	ENSP00000432625.1:n.438+1G>A
ENST00000533123.5:c.439G>A	ENSP00000435950.1:p.Val147Met
ENST00000533196.1:n.375-502G>A
ENST00000534405.5:c.439G>A	ENSP00000434353.1:p.Val147Met
NM_000543.4:c.439G>A	NP_000534.3:p.Val147Met
NM_001007593.2:c.436G>A	NP_001007594.2:p.Val146Met
XM_005253075.3:c.439G>A	XP_005253132.1:p.Val147Met
XM_011520303.1:c.439G>A	XP_011518605.1:p.Val147Met
XM_011520304.1:c.439G>A	XP_011518606.1:p.Val147Met
XR_930886.1:n.737G>A
NM_001318087.1:c.439G>A	NP_001305016.1:p.Val147Met
NM_001318088.1:c.-523G>A	NP_001305017.1:n.-523G>A
NM_001365135.1:c.439G>A	NP_001352064.1:p.Val147Met
NR_027400.2:n.624G>A
NR_134502.1:n.623+1G>A
XM_011520304.2:c.439G>A	XP_011518606.1:p.Val147Met
XR_001747940.2:n.564G>A
XR_002957158.1:n.564G>A
NM_000543.5:c.439G>A MANE Select	NP_000534.3:p.Val147Met
NM_001007593.3:c.436G>A	NP_001007594.2:p.Val146Met
NM_001318087.2:c.439G>A	NP_001305016.1:p.Val147Met
NM_001318088.2:c.-523G>A	NP_001305017.1:n.-523G>A
NM_001365135.2:c.439G>A	NP_001352064.1:p.Val147Met
NR_027400.3:n.564G>A
NR_134502.2:n.563+1G>A