Canonical Allele Identifier: CA1950150381

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394723C= , CM000673.2:g.6394723C=	GRCh38
NC_000011.9:g.6415953C= , CM000673.1:g.6415953C=	GRCh37
NC_000011.8:g.6372529C=	NCBI36
NG_011780.1:g.9299C=
NG_029615.1:g.29692G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*116C= MANE Select	ENSP00000340409.4:n.*116C=
ENST00000342245.8:c.*116C=	ENSP00000340409.4:n.*116C=
ENST00000526280.1:c.1069C=
ENST00000527275.5:c.*116C=	ENSP00000435350.1:n.*116C=
ENST00000531303.5:c.*863C=	ENSP00000432625.1:n.*863C=
ENST00000533123.5:c.*739C=	ENSP00000435950.1:n.*739C=
ENST00000534405.5:c.*843C=	ENSP00000434353.1:n.*843C=
NM_000543.4:c.*116C=	NP_000534.3:n.*116C=
NM_001007593.2:c.*116C=	NP_001007594.2:n.*116C=
XM_011520303.1:c.*116C=	XP_011518605.1:n.*116C=
NM_001318087.1:c.*505C=	NP_001305016.1:n.*505C=
NM_001318088.1:c.*116C=	NP_001305017.1:n.*116C=
NM_001365135.1:c.*116C=	NP_001352064.1:n.*116C=
NR_027400.2:n.2025C=
NR_134502.1:n.1564C=
XR_001747940.2:n.2197C=
XR_002957158.1:n.2379C=
NM_000543.5:c.*116C= MANE Select	NP_000534.3:n.*116C=
NM_001007593.3:c.*116C=	NP_001007594.2:n.*116C=
NM_001318087.2:c.*505C=	NP_001305016.1:n.*505C=
NM_001318088.2:c.*116C=	NP_001305017.1:n.*116C=
NM_001365135.2:c.*116C=	NP_001352064.1:n.*116C=
NR_027400.3:n.1965C=
NR_134502.2:n.1504C=