Canonical Allele Identifier: CA1950150487

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394840C= , CM000673.2:g.6394840C=	GRCh38
NC_000011.9:g.6416070C= , CM000673.1:g.6416070C=	GRCh37
NC_000011.8:g.6372646C=	NCBI36
NG_011780.1:g.9416C=
NG_029615.1:g.29575G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*233C= MANE Select	ENSP00000340409.4:n.*233C=
ENST00000342245.8:c.*233C=	ENSP00000340409.4:n.*233C=
ENST00000526280.1:c.1186C=
ENST00000533123.5:c.*856C=	ENSP00000435950.1:n.*856C=
ENST00000534405.5:c.*960C=	ENSP00000434353.1:n.*960C=
NM_000543.4:c.*233C=	NP_000534.3:n.*233C=
NM_001007593.2:c.*233C=	NP_001007594.2:n.*233C=
XM_011520303.1:c.*233C=	XP_011518605.1:n.*233C=
NM_001318087.1:c.*622C=	NP_001305016.1:n.*622C=
NM_001318088.1:c.*233C=	NP_001305017.1:n.*233C=
NM_001365135.1:c.*233C=	NP_001352064.1:n.*233C=
NR_027400.2:n.2142C=
NR_134502.1:n.1681C=
XR_001747940.2:n.2314C=
XR_002957158.1:n.2496C=
NM_000543.5:c.*233C= MANE Select	NP_000534.3:n.*233C=
NM_001007593.3:c.*233C=	NP_001007594.2:n.*233C=
NM_001318087.2:c.*622C=	NP_001305016.1:n.*622C=
NM_001318088.2:c.*233C=	NP_001305017.1:n.*233C=
NM_001365135.2:c.*233C=	NP_001352064.1:n.*233C=
NR_027400.3:n.2082C=
NR_134502.2:n.1621C=