Canonical Allele Identifier: CA1950150570

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394932C= , CM000673.2:g.6394932C=	GRCh38
NC_000011.9:g.6416162C= , CM000673.1:g.6416162C=	GRCh37
NC_000011.8:g.6372738C=	NCBI36
NG_011780.1:g.9508C=
NG_029615.1:g.29483G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*325C= MANE Select	ENSP00000340409.4:n.*325C=
ENST00000342245.8:c.*325C=	ENSP00000340409.4:n.*325C=
ENST00000526280.1:c.1278C=
ENST00000533123.5:c.*948C=	ENSP00000435950.1:n.*948C=
ENST00000534405.5:c.*1052C=	ENSP00000434353.1:n.*1052C=
NM_000543.4:c.*325C=	NP_000534.3:n.*325C=
NM_001007593.2:c.*325C=	NP_001007594.2:n.*325C=
XM_011520303.1:c.*325C=	XP_011518605.1:n.*325C=
NM_001318087.1:c.*714C=	NP_001305016.1:n.*714C=
NM_001318088.1:c.*325C=	NP_001305017.1:n.*325C=
NM_001365135.1:c.*325C=	NP_001352064.1:n.*325C=
NR_027400.2:n.2234C=
NR_134502.1:n.1773C=
XR_001747940.2:n.2406C=
XR_002957158.1:n.2588C=
NM_000543.5:c.*325C= MANE Select	NP_000534.3:n.*325C=
NM_001007593.3:c.*325C=	NP_001007594.2:n.*325C=
NM_001318087.2:c.*714C=	NP_001305016.1:n.*714C=
NM_001318088.2:c.*325C=	NP_001305017.1:n.*325C=
NM_001365135.2:c.*325C=	NP_001352064.1:n.*325C=
NR_027400.3:n.2174C=
NR_134502.2:n.1713C=