Canonical Allele Identifier: CA1950150367

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394715C= , CM000673.2:g.6394715C=	GRCh38
NC_000011.9:g.6415945C= , CM000673.1:g.6415945C=	GRCh37
NC_000011.8:g.6372521C=	NCBI36
NG_011780.1:g.9291C=
NG_029615.1:g.29700G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*108C= MANE Select	ENSP00000340409.4:n.*108C=
ENST00000342245.8:c.*108C=	ENSP00000340409.4:n.*108C=
ENST00000526280.1:c.1061C=
ENST00000527275.5:c.*108C=	ENSP00000435350.1:n.*108C=
ENST00000531303.5:c.*855C=	ENSP00000432625.1:n.*855C=
ENST00000533123.5:c.*731C=	ENSP00000435950.1:n.*731C=
ENST00000534405.5:c.*835C=	ENSP00000434353.1:n.*835C=
NM_000543.4:c.*108C=	NP_000534.3:n.*108C=
NM_001007593.2:c.*108C=	NP_001007594.2:n.*108C=
XM_011520303.1:c.*108C=	XP_011518605.1:n.*108C=
NM_001318087.1:c.*497C=	NP_001305016.1:n.*497C=
NM_001318088.1:c.*108C=	NP_001305017.1:n.*108C=
NM_001365135.1:c.*108C=	NP_001352064.1:n.*108C=
NR_027400.2:n.2017C=
NR_134502.1:n.1556C=
XR_001747940.2:n.2189C=
XR_002957158.1:n.2371C=
NM_000543.5:c.*108C= MANE Select	NP_000534.3:n.*108C=
NM_001007593.3:c.*108C=	NP_001007594.2:n.*108C=
NM_001318087.2:c.*497C=	NP_001305016.1:n.*497C=
NM_001318088.2:c.*108C=	NP_001305017.1:n.*108C=
NM_001365135.2:c.*108C=	NP_001352064.1:n.*108C=
NR_027400.3:n.1957C=
NR_134502.2:n.1496C=