Canonical Allele Identifier: CA379375547

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 992131
• ClinVar RCV Id: RCV001280461
• dbSNP Id: rs1429766647
• gnomAD v2: 11-6415256-A-C
• gnomAD v4: 11-6394026-A-C
• MyVariant Identifiers: chr11:g.6415256A>C (hg19) ; chr11:g.6394026A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394026A>C , CM000673.2:g.6394026A>C	GRCh38
NC_000011.9:g.6415256A>C , CM000673.1:g.6415256A>C	GRCh37
NC_000011.8:g.6371832A>C	NCBI36
NG_011780.1:g.8602A>C
NG_029615.1:g.30389T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1471A>C MANE Select	ENSP00000340409.4:p.Ile491Leu
ENST00000342245.8:c.1471A>C	ENSP00000340409.4:p.Ile491Leu
ENST00000526280.1:c.528A>C
ENST00000527275.5:c.1468A>C	ENSP00000435350.1:p.Ile490Leu
ENST00000531303.5:c.*302A>C	ENSP00000432625.1:n.*302A>C
ENST00000531336.1:n.303A>C
ENST00000532367.1:n.307A>C
ENST00000533123.5:c.*198A>C	ENSP00000435950.1:n.*198A>C
ENST00000534405.5:c.*302A>C	ENSP00000434353.1:n.*302A>C
NM_000543.4:c.1471A>C	NP_000534.3:p.Ile491Leu
NM_001007593.2:c.1468A>C	NP_001007594.2:p.Ile490Leu
XM_005253075.3:c.1471A>C	XP_005253132.1:p.Ile491Leu
XM_011520303.1:c.1339A>C	XP_011518605.1:p.Ile447Leu
XM_011520304.1:c.1339A>C	XP_011518606.1:p.Ile447Leu
XR_930886.1:n.1809A>C
NM_001318087.1:c.1471A>C	NP_001305016.1:p.Ile491Leu
NM_001318088.1:c.550A>C	NP_001305017.1:p.Ile184Leu
NM_001365135.1:c.1339A>C	NP_001352064.1:p.Ile447Leu
NR_027400.2:n.1484A>C
NR_134502.1:n.1003A>C
XM_011520304.2:c.1339A>C	XP_011518606.1:p.Ile447Leu
XR_001747940.2:n.1636A>C
XR_002957158.1:n.1838A>C
NM_000543.5:c.1471A>C MANE Select	NP_000534.3:p.Ile491Leu
NM_001007593.3:c.1468A>C	NP_001007594.2:p.Ile490Leu
NM_001318087.2:c.1471A>C	NP_001305016.1:p.Ile491Leu
NM_001318088.2:c.550A>C	NP_001305017.1:p.Ile184Leu
NM_001365135.2:c.1339A>C	NP_001352064.1:p.Ile447Leu
NR_027400.3:n.1424A>C
NR_134502.2:n.943A>C