Canonical Allele Identifier: CA1950150463

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394817C= , CM000673.2:g.6394817C=	GRCh38
NC_000011.9:g.6416047C= , CM000673.1:g.6416047C=	GRCh37
NC_000011.8:g.6372623C=	NCBI36
NG_011780.1:g.9393C=
NG_029615.1:g.29598G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*210C= MANE Select	ENSP00000340409.4:n.*210C=
ENST00000342245.8:c.*210C=	ENSP00000340409.4:n.*210C=
ENST00000526280.1:c.1163C=
ENST00000533123.5:c.*833C=	ENSP00000435950.1:n.*833C=
ENST00000534405.5:c.*937C=	ENSP00000434353.1:n.*937C=
NM_000543.4:c.*210C=	NP_000534.3:n.*210C=
NM_001007593.2:c.*210C=	NP_001007594.2:n.*210C=
XM_011520303.1:c.*210C=	XP_011518605.1:n.*210C=
NM_001318087.1:c.*599C=	NP_001305016.1:n.*599C=
NM_001318088.1:c.*210C=	NP_001305017.1:n.*210C=
NM_001365135.1:c.*210C=	NP_001352064.1:n.*210C=
NR_027400.2:n.2119C=
NR_134502.1:n.1658C=
XR_001747940.2:n.2291C=
XR_002957158.1:n.2473C=
NM_000543.5:c.*210C= MANE Select	NP_000534.3:n.*210C=
NM_001007593.3:c.*210C=	NP_001007594.2:n.*210C=
NM_001318087.2:c.*599C=	NP_001305016.1:n.*599C=
NM_001318088.2:c.*210C=	NP_001305017.1:n.*210C=
NM_001365135.2:c.*210C=	NP_001352064.1:n.*210C=
NR_027400.3:n.2059C=
NR_134502.2:n.1598C=