Canonical Allele Identifier: CA1950145575

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390547C= , CM000673.2:g.6390547C=	GRCh38
NC_000011.9:g.6411777C= , CM000673.1:g.6411777C=	GRCh37
NC_000011.8:g.6368353C=	NCBI36
NG_011780.1:g.5123C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.-52C= MANE Select	ENSP00000340409.4:n.-52C=
ENST00000342245.8:c.-52C=	ENSP00000340409.4:n.-52C=
ENST00000527275.5:c.-52C=	ENSP00000435350.1:n.-52C=
ENST00000530395.1:c.-188C=	ENSP00000431479.1:n.-188C=
ENST00000533123.5:c.-52C=	ENSP00000435950.1:n.-52C=
ENST00000533196.1:n.108C=
ENST00000534405.5:c.-52C=	ENSP00000434353.1:n.-52C=
NM_000543.4:c.-52C=	NP_000534.3:n.-52C=
NM_001007593.2:c.-52C=	NP_001007594.2:n.-52C=
XM_005253075.3:c.-52C=	XP_005253132.1:n.-52C=
XM_011520303.1:c.-52C=	XP_011518605.1:n.-52C=
XM_011520304.1:c.-52C=	XP_011518606.1:n.-52C=
XR_930886.1:n.247C=
NM_001318087.1:c.-52C=	NP_001305016.1:n.-52C=
NM_001318088.1:c.-1013C=	NP_001305017.1:n.-1013C=
NM_001365135.1:c.-52C=	NP_001352064.1:n.-52C=
NR_027400.2:n.134C=
NR_134502.1:n.134C=
XM_011520304.2:c.-52C=	XP_011518606.1:n.-52C=
XR_001747940.2:n.74C=
XR_002957158.1:n.74C=
NM_000543.5:c.-52C= MANE Select	NP_000534.3:n.-52C=
NM_001007593.3:c.-52C=	NP_001007594.2:n.-52C=
NM_001318087.2:c.-52C=	NP_001305016.1:n.-52C=
NM_001318088.2:c.-1013C=	NP_001305017.1:n.-1013C=
NM_001365135.2:c.-52C=	NP_001352064.1:n.-52C=
NR_027400.3:n.74C=
NR_134502.2:n.74C=