Canonical Allele Identifier: CA1950148179

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393419T= , CM000673.2:g.6393419T=	GRCh38
NC_000011.9:g.6414649T= , CM000673.1:g.6414649T=	GRCh37
NC_000011.8:g.6371225T=	NCBI36
NG_011780.1:g.7995T=
NG_029615.1:g.30996A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1263+32T= MANE Select	ENSP00000340409.4:n.1263+32T=
ENST00000342245.8:c.1263+32T=	ENSP00000340409.4:n.1263+32T=
ENST00000526280.1:c.321-198T=
ENST00000527275.5:c.1260+32T=	ENSP00000435350.1:n.1260+32T=
ENST00000531303.5:c.*94+32T=	ENSP00000432625.1:n.*94+32T=
ENST00000531336.1:n.95+32T=
ENST00000533123.5:c.1092-198T=	ENSP00000435950.1:n.1092-198T=
ENST00000534405.5:c.*94+32T=	ENSP00000434353.1:n.*94+32T=
NM_000543.4:c.1263+32T=	NP_000534.3:n.1263+32T=
NM_001007593.2:c.1260+32T=	NP_001007594.2:n.1260+32T=
XM_005253075.3:c.1263+32T=	XP_005253132.1:n.1263+32T=
XM_011520303.1:c.1132-198T=	XP_011518605.1:n.1132-198T=
XM_011520304.1:c.1132-198T=	XP_011518606.1:n.1132-198T=
XR_930886.1:n.1601+32T=
NM_001318087.1:c.1263+32T=	NP_001305016.1:n.1263+32T=
NM_001318088.1:c.342+32T=	NP_001305017.1:n.342+32T=
NM_001365135.1:c.1132-198T=	NP_001352064.1:n.1132-198T=
NR_027400.2:n.1277-198T=
NR_134502.1:n.795+32T=
XM_011520304.2:c.1132-198T=	XP_011518606.1:n.1132-198T=
XR_001747940.2:n.1428+32T=
XR_002957158.1:n.1428+32T=
NM_000543.5:c.1263+32T= MANE Select	NP_000534.3:n.1263+32T=
NM_001007593.3:c.1260+32T=	NP_001007594.2:n.1260+32T=
NM_001318087.2:c.1263+32T=	NP_001305016.1:n.1263+32T=
NM_001318088.2:c.342+32T=	NP_001305017.1:n.342+32T=
NM_001365135.2:c.1132-198T=	NP_001352064.1:n.1132-198T=
NR_027400.3:n.1217-198T=
NR_134502.2:n.735+32T=