Canonical Allele Identifier: CA379375015

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393948T>C , CM000673.2:g.6393948T>C	GRCh38
NC_000011.9:g.6415178T>C , CM000673.1:g.6415178T>C	GRCh37
NC_000011.8:g.6371754T>C	NCBI36
NG_011780.1:g.8524T>C
NG_029615.1:g.30467A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.1393T>C MANE Select	NP_000534.3:p.Phe465Leu
ENST00000342245.9:c.1393T>C MANE Select	ENSP00000340409.4:p.Phe465Leu
NM_000543.4:c.1393T>C	NP_000534.3:p.Phe465Leu
NM_001007593.2:c.1390T>C	NP_001007594.2:p.Phe464Leu
NM_001007593.3:c.1390T>C	NP_001007594.2:p.Phe464Leu
NM_001318087.1:c.1393T>C	NP_001305016.1:p.Phe465Leu
NM_001318087.2:c.1393T>C	NP_001305016.1:p.Phe465Leu
NM_001318088.1:c.472T>C	NP_001305017.1:p.Phe158Leu
NM_001318088.2:c.472T>C	NP_001305017.1:p.Phe158Leu
NM_001365135.1:c.1261T>C	NP_001352064.1:p.Phe421Leu
NM_001365135.2:c.1261T>C	NP_001352064.1:p.Phe421Leu
NR_027400.2:n.1406T>C
NR_027400.3:n.1346T>C
NR_134502.1:n.925T>C
NR_134502.2:n.865T>C
ENST00000342245.8:c.1393T>C	ENSP00000340409.4:p.Phe465Leu
ENST00000526280.1:c.450T>C
ENST00000527275.5:c.1390T>C	ENSP00000435350.1:p.Phe464Leu
ENST00000531303.5:c.*224T>C	ENSP00000432625.1:n.*224T>C
ENST00000531336.1:n.225T>C
ENST00000532367.1:n.229T>C
ENST00000533123.5:c.*120T>C	ENSP00000435950.1:n.*120T>C
ENST00000534405.5:c.*224T>C	ENSP00000434353.1:n.*224T>C
XM_005253075.3:c.1393T>C	XP_005253132.1:p.Phe465Leu
XM_011520303.1:c.1261T>C	XP_011518605.1:p.Phe421Leu
XM_011520304.1:c.1261T>C	XP_011518606.1:p.Phe421Leu
XM_011520304.2:c.1261T>C	XP_011518606.1:p.Phe421Leu
XR_001747940.2:n.1558T>C
XR_002957158.1:n.1760T>C
XR_930886.1:n.1731T>C