Canonical Allele Identifier: CA10576033

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 225624
• ClinVar RCV Id: RCV000211547 ; RCV003765358
• dbSNP Id: rs875989836
• MyVariant Identifiers: chr11:g.6415614T>C (hg19) ; chr11:g.6394384T>C (hg38)
• PubMed: PMID:26851525

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394384T>C , CM000673.2:g.6394384T>C	GRCh38
NC_000011.9:g.6415614T>C , CM000673.1:g.6415614T>C	GRCh37
NC_000011.8:g.6372190T>C	NCBI36
NG_011780.1:g.8960T>C
NG_029615.1:g.30031A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1673T>C MANE Select	ENSP00000340409.4:p.Leu558Pro
ENST00000342245.8:c.1673T>C	ENSP00000340409.4:p.Leu558Pro
ENST00000526280.1:c.730T>C
ENST00000527275.5:c.1670T>C	ENSP00000435350.1:p.Leu557Pro
ENST00000531303.5:c.*524T>C	ENSP00000432625.1:n.*524T>C
ENST00000533123.5:c.*400T>C	ENSP00000435950.1:n.*400T>C
ENST00000534405.5:c.*504T>C	ENSP00000434353.1:n.*504T>C
NM_000543.4:c.1673T>C	NP_000534.3:p.Leu558Pro
NM_001007593.2:c.1670T>C	NP_001007594.2:p.Leu557Pro
XM_005253075.3:c.*166T>C	XP_005253132.1:n.*166T>C
XM_011520303.1:c.1541T>C	XP_011518605.1:p.Leu514Pro
XM_011520304.1:c.*166T>C	XP_011518606.1:n.*166T>C
NM_001318087.1:c.*166T>C	NP_001305016.1:n.*166T>C
NM_001318088.1:c.752T>C	NP_001305017.1:p.Leu251Pro
NM_001365135.1:c.1541T>C	NP_001352064.1:p.Leu514Pro
NR_027400.2:n.1686T>C
NR_134502.1:n.1225T>C
XM_011520304.2:c.*166T>C	XP_011518606.1:n.*166T>C
XR_001747940.2:n.1858T>C
XR_002957158.1:n.2040T>C
NM_000543.5:c.1673T>C MANE Select	NP_000534.3:p.Leu558Pro
NM_001007593.3:c.1670T>C	NP_001007594.2:p.Leu557Pro
NM_001318087.2:c.*166T>C	NP_001305016.1:n.*166T>C
NM_001318088.2:c.752T>C	NP_001305017.1:p.Leu251Pro
NM_001365135.2:c.1541T>C	NP_001352064.1:p.Leu514Pro
NR_027400.3:n.1626T>C
NR_134502.2:n.1165T>C