Canonical Allele Identifier: CA1950147853

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393253C= , CM000673.2:g.6393253C=	GRCh38
NC_000011.9:g.6414483C= , CM000673.1:g.6414483C=	GRCh37
NC_000011.8:g.6371059C=	NCBI36
NG_011780.1:g.7829C=
NG_029615.1:g.31162G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1129C= MANE Select	ENSP00000340409.4:p.Leu377=
ENST00000342245.8:c.1129C=	ENSP00000340409.4:p.Leu377=
ENST00000526280.1:c.321-364C=
ENST00000527275.5:c.1126C=	ENSP00000435350.1:p.Leu376=
ENST00000531303.5:c.476C=	ENSP00000432625.1:p.Ser159=
ENST00000533123.5:c.1092-364C=	ENSP00000435950.1:n.1092-364C=
ENST00000534405.5:c.1169C=	ENSP00000434353.1:p.Ser390=
NM_000543.4:c.1129C=	NP_000534.3:p.Leu377=
NM_001007593.2:c.1126C=	NP_001007594.2:p.Leu376=
XM_005253075.3:c.1129C=	XP_005253132.1:p.Leu377=
XM_011520303.1:c.1132-364C=	XP_011518605.1:n.1132-364C=
XM_011520304.1:c.1132-364C=	XP_011518606.1:n.1132-364C=
XR_930886.1:n.1467C=
NM_001318087.1:c.1129C=	NP_001305016.1:p.Leu377=
NM_001318088.1:c.208C=	NP_001305017.1:p.Leu70=
NM_001365135.1:c.1132-364C=	NP_001352064.1:n.1132-364C=
NR_027400.2:n.1277-364C=
NR_134502.1:n.661C=
XM_011520304.2:c.1132-364C=	XP_011518606.1:n.1132-364C=
XR_001747940.2:n.1294C=
XR_002957158.1:n.1294C=
NM_000543.5:c.1129C= MANE Select	NP_000534.3:p.Leu377=
NM_001007593.3:c.1126C=	NP_001007594.2:p.Leu376=
NM_001318087.2:c.1129C=	NP_001305016.1:p.Leu377=
NM_001318088.2:c.208C=	NP_001305017.1:p.Leu70=
NM_001365135.2:c.1132-364C=	NP_001352064.1:n.1132-364C=
NR_027400.3:n.1217-364C=
NR_134502.2:n.601C=