Canonical Allele Identifier: CA379376502

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415550C>T (hg19) ; chr11:g.6394320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394320C>T , CM000673.2:g.6394320C>T	GRCh38
NC_000011.9:g.6415550C>T , CM000673.1:g.6415550C>T	GRCh37
NC_000011.8:g.6372126C>T	NCBI36
NG_011780.1:g.8896C>T
NG_029615.1:g.30095G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1609C>T MANE Select	ENSP00000340409.4:p.Leu537Phe
ENST00000342245.8:c.1609C>T	ENSP00000340409.4:p.Leu537Phe
ENST00000526280.1:c.666C>T
ENST00000527275.5:c.1606C>T	ENSP00000435350.1:p.Leu536Phe
ENST00000531303.5:c.*460C>T	ENSP00000432625.1:n.*460C>T
ENST00000531336.1:n.597C>T
ENST00000533123.5:c.*336C>T	ENSP00000435950.1:n.*336C>T
ENST00000534405.5:c.*440C>T	ENSP00000434353.1:n.*440C>T
NM_000543.4:c.1609C>T	NP_000534.3:p.Leu537Phe
NM_001007593.2:c.1606C>T	NP_001007594.2:p.Leu536Phe
XM_005253075.3:c.*102C>T	XP_005253132.1:n.*102C>T
XM_011520303.1:c.1477C>T	XP_011518605.1:p.Leu493Phe
XM_011520304.1:c.*102C>T	XP_011518606.1:n.*102C>T
NM_001318087.1:c.*102C>T	NP_001305016.1:n.*102C>T
NM_001318088.1:c.688C>T	NP_001305017.1:p.Leu230Phe
NM_001365135.1:c.1477C>T	NP_001352064.1:p.Leu493Phe
NR_027400.2:n.1622C>T
NR_134502.1:n.1161C>T
XM_011520304.2:c.*102C>T	XP_011518606.1:n.*102C>T
XR_001747940.2:n.1794C>T
XR_002957158.1:n.1976C>T
NM_000543.5:c.1609C>T MANE Select	NP_000534.3:p.Leu537Phe
NM_001007593.3:c.1606C>T	NP_001007594.2:p.Leu536Phe
NM_001318087.2:c.*102C>T	NP_001305016.1:n.*102C>T
NM_001318088.2:c.688C>T	NP_001305017.1:p.Leu230Phe
NM_001365135.2:c.1477C>T	NP_001352064.1:p.Leu493Phe
NR_027400.3:n.1562C>T
NR_134502.2:n.1101C>T