Canonical Allele Identifier: CA1950146613

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392162T= , CM000673.2:g.6392162T=	GRCh38
NC_000011.9:g.6413392T= , CM000673.1:g.6413392T=	GRCh37
NC_000011.8:g.6369968T=	NCBI36
NG_011780.1:g.6738T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+6T= MANE Select	ENSP00000340409.4:n.1091+6T=
ENST00000342245.8:c.1091+6T=	ENSP00000340409.4:n.1091+6T=
ENST00000526280.1:c.286T=
ENST00000527275.5:c.1088+6T=	ENSP00000435350.1:n.1088+6T=
ENST00000531303.5:c.438+659T=	ENSP00000432625.1:n.438+659T=
ENST00000533123.5:c.1091+6T=	ENSP00000435950.1:n.1091+6T=
ENST00000534405.5:c.1097T=	ENSP00000434353.1:p.Leu366=
NM_000543.4:c.1091+6T=	NP_000534.3:n.1091+6T=
NM_001007593.2:c.1088+6T=	NP_001007594.2:n.1088+6T=
XM_005253075.3:c.1091+6T=	XP_005253132.1:n.1091+6T=
XM_011520303.1:c.1097T=	XP_011518605.1:p.Leu366=
XM_011520304.1:c.1097T=	XP_011518606.1:p.Leu366=
XR_930886.1:n.1395T=
NM_001318087.1:c.1091+6T=	NP_001305016.1:n.1091+6T=
NM_001318088.1:c.136T=	NP_001305017.1:p.Tyr46=
NM_001365135.1:c.1097T=	NP_001352064.1:p.Leu366=
NR_027400.2:n.1276+6T=
NR_134502.1:n.623+659T=
XM_011520304.2:c.1097T=	XP_011518606.1:p.Leu366=
XR_001747940.2:n.1222T=
XR_002957158.1:n.1222T=
NM_000543.5:c.1091+6T= MANE Select	NP_000534.3:n.1091+6T=
NM_001007593.3:c.1088+6T=	NP_001007594.2:n.1088+6T=
NM_001318087.2:c.1091+6T=	NP_001305016.1:n.1091+6T=
NM_001318088.2:c.136T=	NP_001305017.1:p.Tyr46=
NM_001365135.2:c.1097T=	NP_001352064.1:p.Leu366=
NR_027400.3:n.1216+6T=
NR_134502.2:n.563+659T=