Canonical Allele Identifier: CA1950150274

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394622C= , CM000673.2:g.6394622C=	GRCh38
NC_000011.9:g.6415852C= , CM000673.1:g.6415852C=	GRCh37
NC_000011.8:g.6372428C=	NCBI36
NG_011780.1:g.9198C=
NG_029615.1:g.29793G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*15C= MANE Select	ENSP00000340409.4:n.*15C=
ENST00000342245.8:c.*15C=	ENSP00000340409.4:n.*15C=
ENST00000526280.1:c.968C=
ENST00000527275.5:c.*15C=	ENSP00000435350.1:n.*15C=
ENST00000531303.5:c.*762C=	ENSP00000432625.1:n.*762C=
ENST00000533123.5:c.*638C=	ENSP00000435950.1:n.*638C=
ENST00000534405.5:c.*742C=	ENSP00000434353.1:n.*742C=
NM_000543.4:c.*15C=	NP_000534.3:n.*15C=
NM_001007593.2:c.*15C=	NP_001007594.2:n.*15C=
XM_011520303.1:c.*15C=	XP_011518605.1:n.*15C=
NM_001318087.1:c.*404C=	NP_001305016.1:n.*404C=
NM_001318088.1:c.*15C=	NP_001305017.1:n.*15C=
NM_001365135.1:c.*15C=	NP_001352064.1:n.*15C=
NR_027400.2:n.1924C=
NR_134502.1:n.1463C=
XR_001747940.2:n.2096C=
XR_002957158.1:n.2278C=
NM_000543.5:c.*15C= MANE Select	NP_000534.3:n.*15C=
NM_001007593.3:c.*15C=	NP_001007594.2:n.*15C=
NM_001318087.2:c.*404C=	NP_001305016.1:n.*404C=
NM_001318088.2:c.*15C=	NP_001305017.1:n.*15C=
NM_001365135.2:c.*15C=	NP_001352064.1:n.*15C=
NR_027400.3:n.1864C=
NR_134502.2:n.1403C=