Canonical Allele Identifier: CA5852679

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1139226
• ClinVar RCV Id: RCV001475825
• dbSNP Id: rs752000778
• ExAC: 11:6413054 C / T
• gnomAD v2: 11-6413054-C-T
• gnomAD v4: 11-6391824-C-T
• MyVariant Identifiers: chr11:g.6413054C>T (hg19) ; chr11:g.6391824C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391824C>T , CM000673.2:g.6391824C>T	GRCh38
NC_000011.9:g.6413054C>T , CM000673.1:g.6413054C>T	GRCh37
NC_000011.8:g.6369630C>T	NCBI36
NG_011780.1:g.6400C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.759C>T MANE Select	ENSP00000340409.4:p.Asp253=
ENST00000342245.8:c.759C>T	ENSP00000340409.4:p.Asp253=
ENST00000527275.5:c.756C>T	ENSP00000435350.1:p.Asp252=
ENST00000530395.1:c.-61C>T	ENSP00000431479.1:n.-61C>T
ENST00000531303.5:c.438+321C>T	ENSP00000432625.1:n.438+321C>T
ENST00000533123.5:c.759C>T	ENSP00000435950.1:p.Asp253=
ENST00000533196.1:n.375-182C>T
ENST00000534405.5:c.759C>T	ENSP00000434353.1:p.Asp253=
NM_000543.4:c.759C>T	NP_000534.3:p.Asp253=
NM_001007593.2:c.756C>T	NP_001007594.2:p.Asp252=
XM_005253075.3:c.759C>T	XP_005253132.1:p.Asp253=
XM_011520303.1:c.759C>T	XP_011518605.1:p.Asp253=
XM_011520304.1:c.759C>T	XP_011518606.1:p.Asp253=
XR_930886.1:n.1057C>T
NM_001318087.1:c.759C>T	NP_001305016.1:p.Asp253=
NM_001318088.1:c.-203C>T	NP_001305017.1:n.-203C>T
NM_001365135.1:c.759C>T	NP_001352064.1:p.Asp253=
NR_027400.2:n.944C>T
NR_134502.1:n.623+321C>T
XM_011520304.2:c.759C>T	XP_011518606.1:p.Asp253=
XR_001747940.2:n.884C>T
XR_002957158.1:n.884C>T
NM_000543.5:c.759C>T MANE Select	NP_000534.3:p.Asp253=
NM_001007593.3:c.756C>T	NP_001007594.2:p.Asp252=
NM_001318087.2:c.759C>T	NP_001305016.1:p.Asp253=
NM_001318088.2:c.-203C>T	NP_001305017.1:n.-203C>T
NM_001365135.2:c.759C>T	NP_001352064.1:p.Asp253=
NR_027400.3:n.884C>T
NR_134502.2:n.563+321C>T