Canonical Allele Identifier: CA472736670

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1147113
• ClinVar RCV Id: RCV001486520
• dbSNP Id: rs1848016999
• gnomAD v4: 11-6393261-C-T
• MyVariant Identifiers: chr11:g.6414491C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393261C>T , CM000673.2:g.6393261C>T	GRCh38
NC_000011.9:g.6414491C>T , CM000673.1:g.6414491C>T	GRCh37
NC_000011.8:g.6371067C>T	NCBI36
NG_011780.1:g.7837C>T
NG_029615.1:g.31154G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1137C>T MANE Select	ENSP00000340409.4:p.Leu379=
ENST00000342245.8:c.1137C>T	ENSP00000340409.4:p.Leu379=
ENST00000526280.1:c.321-356C>T
ENST00000527275.5:c.1134C>T	ENSP00000435350.1:p.Leu378=
ENST00000531303.5:c.484C>T	ENSP00000432625.1:p.His162Tyr
ENST00000533123.5:c.1092-356C>T	ENSP00000435950.1:n.1092-356C>T
ENST00000534405.5:c.1177C>T	ENSP00000434353.1:p.His393Tyr
NM_000543.4:c.1137C>T	NP_000534.3:p.Leu379=
NM_001007593.2:c.1134C>T	NP_001007594.2:p.Leu378=
XM_005253075.3:c.1137C>T	XP_005253132.1:p.Leu379=
XM_011520303.1:c.1132-356C>T	XP_011518605.1:n.1132-356C>T
XM_011520304.1:c.1132-356C>T	XP_011518606.1:n.1132-356C>T
XR_930886.1:n.1475C>T
NM_001318087.1:c.1137C>T	NP_001305016.1:p.Leu379=
NM_001318088.1:c.216C>T	NP_001305017.1:p.Leu72=
NM_001365135.1:c.1132-356C>T	NP_001352064.1:n.1132-356C>T
NR_027400.2:n.1277-356C>T
NR_134502.1:n.669C>T
XM_011520304.2:c.1132-356C>T	XP_011518606.1:n.1132-356C>T
XR_001747940.2:n.1302C>T
XR_002957158.1:n.1302C>T
NM_000543.5:c.1137C>T MANE Select	NP_000534.3:p.Leu379=
NM_001007593.3:c.1134C>T	NP_001007594.2:p.Leu378=
NM_001318087.2:c.1137C>T	NP_001305016.1:p.Leu379=
NM_001318088.2:c.216C>T	NP_001305017.1:p.Leu72=
NM_001365135.2:c.1132-356C>T	NP_001352064.1:n.1132-356C>T
NR_027400.3:n.1217-356C>T
NR_134502.2:n.609C>T