Canonical Allele Identifier: CA472909417

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1115711
• ClinVar RCV Id: RCV001443812
• dbSNP Id: rs758313663
• gnomAD v3: 11-6391551-C-G
• gnomAD v4: 11-6391551-C-G
• MyVariant Identifiers: chr11:g.6412781C>G (hg19) ; chr11:g.6391551C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391551C>G , CM000673.2:g.6391551C>G	GRCh38
NC_000011.9:g.6412781C>G , CM000673.1:g.6412781C>G	GRCh37
NC_000011.8:g.6369357C>G	NCBI36
NG_011780.1:g.6127C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.486C>G MANE Select	ENSP00000340409.4:p.Leu162=
ENST00000342245.8:c.486C>G	ENSP00000340409.4:p.Leu162=
ENST00000527275.5:c.483C>G	ENSP00000435350.1:p.Leu161=
ENST00000530395.1:c.-95-239C>G	ENSP00000431479.1:n.-95-239C>G
ENST00000531303.5:c.438+48C>G	ENSP00000432625.1:n.438+48C>G
ENST00000533123.5:c.486C>G	ENSP00000435950.1:p.Leu162=
ENST00000533196.1:n.375-455C>G
ENST00000534405.5:c.486C>G	ENSP00000434353.1:p.Leu162=
NM_000543.4:c.486C>G	NP_000534.3:p.Leu162=
NM_001007593.2:c.483C>G	NP_001007594.2:p.Leu161=
XM_005253075.3:c.486C>G	XP_005253132.1:p.Leu162=
XM_011520303.1:c.486C>G	XP_011518605.1:p.Leu162=
XM_011520304.1:c.486C>G	XP_011518606.1:p.Leu162=
XR_930886.1:n.784C>G
NM_001318087.1:c.486C>G	NP_001305016.1:p.Leu162=
NM_001318088.1:c.-476C>G	NP_001305017.1:n.-476C>G
NM_001365135.1:c.486C>G	NP_001352064.1:p.Leu162=
NR_027400.2:n.671C>G
NR_134502.1:n.623+48C>G
XM_011520304.2:c.486C>G	XP_011518606.1:p.Leu162=
XR_001747940.2:n.611C>G
XR_002957158.1:n.611C>G
NM_000543.5:c.486C>G MANE Select	NP_000534.3:p.Leu162=
NM_001007593.3:c.483C>G	NP_001007594.2:p.Leu161=
NM_001318087.2:c.486C>G	NP_001305016.1:p.Leu162=
NM_001318088.2:c.-476C>G	NP_001305017.1:n.-476C>G
NM_001365135.2:c.486C>G	NP_001352064.1:p.Leu162=
NR_027400.3:n.611C>G
NR_134502.2:n.563+48C>G