Canonical Allele Identifier: CA5852943

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394306T>C , CM000673.2:g.6394306T>C	GRCh38
NC_000011.9:g.6415536T>C , CM000673.1:g.6415536T>C	GRCh37
NC_000011.8:g.6372112T>C	NCBI36
NG_011780.1:g.8882T>C
NG_029615.1:g.30109A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.1595T>C MANE Select	NP_000534.3:p.Ile532Thr
ENST00000342245.9:c.1595T>C MANE Select	ENSP00000340409.4:p.Ile532Thr
NM_000543.4:c.1595T>C	NP_000534.3:p.Ile532Thr
NM_001007593.2:c.1592T>C	NP_001007594.2:p.Ile531Thr
NM_001007593.3:c.1592T>C	NP_001007594.2:p.Ile531Thr
NM_001318087.1:c.*88T>C	NP_001305016.1:n.*88T>C
NM_001318087.2:c.*88T>C	NP_001305016.1:n.*88T>C
NM_001318088.1:c.674T>C	NP_001305017.1:p.Ile225Thr
NM_001318088.2:c.674T>C	NP_001305017.1:p.Ile225Thr
NM_001365135.1:c.1463T>C	NP_001352064.1:p.Ile488Thr
NM_001365135.2:c.1463T>C	NP_001352064.1:p.Ile488Thr
NR_027400.2:n.1608T>C
NR_027400.3:n.1548T>C
NR_134502.1:n.1147T>C
NR_134502.2:n.1087T>C
ENST00000342245.8:c.1595T>C	ENSP00000340409.4:p.Ile532Thr
ENST00000526280.1:c.652T>C
ENST00000527275.5:c.1592T>C	ENSP00000435350.1:p.Ile531Thr
ENST00000531303.5:c.*446T>C	ENSP00000432625.1:n.*446T>C
ENST00000531336.1:n.583T>C
ENST00000533123.5:c.*322T>C	ENSP00000435950.1:n.*322T>C
ENST00000534405.5:c.*426T>C	ENSP00000434353.1:n.*426T>C
XM_005253075.3:c.*88T>C	XP_005253132.1:n.*88T>C
XM_011520303.1:c.1463T>C	XP_011518605.1:p.Ile488Thr
XM_011520304.1:c.*88T>C	XP_011518606.1:n.*88T>C
XM_011520304.2:c.*88T>C	XP_011518606.1:n.*88T>C
XR_001747940.2:n.1780T>C
XR_002957158.1:n.1962T>C