Canonical Allele Identifier: CA472909783

Gene: SMPD1

Linked Data

• dbSNP Id: rs1345453198
• gnomAD v2: 11-6413210-G-A
• gnomAD v4: 11-6391980-G-A
• MyVariant Identifiers: chr11:g.6413210G>A (hg19) ; chr11:g.6391980G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391980G>A , CM000673.2:g.6391980G>A	GRCh38
NC_000011.9:g.6413210G>A , CM000673.1:g.6413210G>A	GRCh37
NC_000011.8:g.6369786G>A	NCBI36
NG_011780.1:g.6556G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.915G>A MANE Select	ENSP00000340409.4:p.Val305=
ENST00000342245.8:c.915G>A	ENSP00000340409.4:p.Val305=
ENST00000526280.1:c.104G>A
ENST00000527275.5:c.912G>A	ENSP00000435350.1:p.Val304=
ENST00000530395.1:c.96G>A	ENSP00000431479.1:p.Val32=
ENST00000531303.5:c.438+477G>A	ENSP00000432625.1:n.438+477G>A
ENST00000533123.5:c.915G>A	ENSP00000435950.1:p.Val305=
ENST00000533196.1:n.375-26G>A
ENST00000534405.5:c.915G>A	ENSP00000434353.1:p.Val305=
NM_000543.4:c.915G>A	NP_000534.3:p.Val305=
NM_001007593.2:c.912G>A	NP_001007594.2:p.Val304=
XM_005253075.3:c.915G>A	XP_005253132.1:p.Val305=
XM_011520303.1:c.915G>A	XP_011518605.1:p.Val305=
XM_011520304.1:c.915G>A	XP_011518606.1:p.Val305=
XR_930886.1:n.1213G>A
NM_001318087.1:c.915G>A	NP_001305016.1:p.Val305=
NM_001318088.1:c.-47G>A	NP_001305017.1:n.-47G>A
NM_001365135.1:c.915G>A	NP_001352064.1:p.Val305=
NR_027400.2:n.1100G>A
NR_134502.1:n.623+477G>A
XM_011520304.2:c.915G>A	XP_011518606.1:p.Val305=
XR_001747940.2:n.1040G>A
XR_002957158.1:n.1040G>A
NM_000543.5:c.915G>A MANE Select	NP_000534.3:p.Val305=
NM_001007593.3:c.912G>A	NP_001007594.2:p.Val304=
NM_001318087.2:c.915G>A	NP_001305016.1:p.Val305=
NM_001318088.2:c.-47G>A	NP_001305017.1:n.-47G>A
NM_001365135.2:c.915G>A	NP_001352064.1:p.Val305=
NR_027400.3:n.1040G>A
NR_134502.2:n.563+477G>A