Canonical Allele Identifier: CA379371261

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1067199
• ClinVar RCV Id: RCV001378395
• dbSNP Id: rs2134012389
• MyVariant Identifiers: chr11:g.6413205C>T (hg19) ; chr11:g.6391975C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391975C>T , CM000673.2:g.6391975C>T	GRCh38
NC_000011.9:g.6413205C>T , CM000673.1:g.6413205C>T	GRCh37
NC_000011.8:g.6369781C>T	NCBI36
NG_011780.1:g.6551C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.910C>T MANE Select	ENSP00000340409.4:p.Leu304Phe
ENST00000342245.8:c.910C>T	ENSP00000340409.4:p.Leu304Phe
ENST00000526280.1:c.99C>T
ENST00000527275.5:c.907C>T	ENSP00000435350.1:p.Leu303Phe
ENST00000530395.1:c.91C>T	ENSP00000431479.1:p.Leu31Phe
ENST00000531303.5:c.438+472C>T	ENSP00000432625.1:n.438+472C>T
ENST00000533123.5:c.910C>T	ENSP00000435950.1:p.Leu304Phe
ENST00000533196.1:n.375-31C>T
ENST00000534405.5:c.910C>T	ENSP00000434353.1:p.Leu304Phe
NM_000543.4:c.910C>T	NP_000534.3:p.Leu304Phe
NM_001007593.2:c.907C>T	NP_001007594.2:p.Leu303Phe
XM_005253075.3:c.910C>T	XP_005253132.1:p.Leu304Phe
XM_011520303.1:c.910C>T	XP_011518605.1:p.Leu304Phe
XM_011520304.1:c.910C>T	XP_011518606.1:p.Leu304Phe
XR_930886.1:n.1208C>T
NM_001318087.1:c.910C>T	NP_001305016.1:p.Leu304Phe
NM_001318088.1:c.-52C>T	NP_001305017.1:n.-52C>T
NM_001365135.1:c.910C>T	NP_001352064.1:p.Leu304Phe
NR_027400.2:n.1095C>T
NR_134502.1:n.623+472C>T
XM_011520304.2:c.910C>T	XP_011518606.1:p.Leu304Phe
XR_001747940.2:n.1035C>T
XR_002957158.1:n.1035C>T
NM_000543.5:c.910C>T MANE Select	NP_000534.3:p.Leu304Phe
NM_001007593.3:c.907C>T	NP_001007594.2:p.Leu303Phe
NM_001318087.2:c.910C>T	NP_001305016.1:p.Leu304Phe
NM_001318088.2:c.-52C>T	NP_001305017.1:n.-52C>T
NM_001365135.2:c.910C>T	NP_001352064.1:p.Leu304Phe
NR_027400.3:n.1035C>T
NR_134502.2:n.563+472C>T