Canonical Allele Identifier: CA1950146490

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392067T= , CM000673.2:g.6392067T=	GRCh38
NC_000011.9:g.6413297T= , CM000673.1:g.6413297T=	GRCh37
NC_000011.8:g.6369873T=	NCBI36
NG_011780.1:g.6643T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1002T= MANE Select	ENSP00000340409.4:p.Ile334=
ENST00000342245.8:c.1002T=	ENSP00000340409.4:p.Ile334=
ENST00000526280.1:c.191T=
ENST00000527275.5:c.999T=	ENSP00000435350.1:p.Ile333=
ENST00000531303.5:c.438+564T=	ENSP00000432625.1:n.438+564T=
ENST00000533123.5:c.1002T=	ENSP00000435950.1:p.Ile334=
ENST00000534405.5:c.1002T=	ENSP00000434353.1:p.Ile334=
NM_000543.4:c.1002T=	NP_000534.3:p.Ile334=
NM_001007593.2:c.999T=	NP_001007594.2:p.Ile333=
XM_005253075.3:c.1002T=	XP_005253132.1:p.Ile334=
XM_011520303.1:c.1002T=	XP_011518605.1:p.Ile334=
XM_011520304.1:c.1002T=	XP_011518606.1:p.Ile334=
XR_930886.1:n.1300T=
NM_001318087.1:c.1002T=	NP_001305016.1:p.Ile334=
NM_001318088.1:c.41T=	NP_001305017.1:p.Leu14=
NM_001365135.1:c.1002T=	NP_001352064.1:p.Ile334=
NR_027400.2:n.1187T=
NR_134502.1:n.623+564T=
XM_011520304.2:c.1002T=	XP_011518606.1:p.Ile334=
XR_001747940.2:n.1127T=
XR_002957158.1:n.1127T=
NM_000543.5:c.1002T= MANE Select	NP_000534.3:p.Ile334=
NM_001007593.3:c.999T=	NP_001007594.2:p.Ile333=
NM_001318087.2:c.1002T=	NP_001305016.1:p.Ile334=
NM_001318088.2:c.41T=	NP_001305017.1:p.Leu14=
NM_001365135.2:c.1002T=	NP_001352064.1:p.Ile334=
NR_027400.3:n.1127T=
NR_134502.2:n.563+564T=