Canonical Allele Identifier: CA1950150071

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394516G= , CM000673.2:g.6394516G=	GRCh38
NC_000011.9:g.6415746G= , CM000673.1:g.6415746G=	GRCh37
NC_000011.8:g.6372322G=	NCBI36
NG_011780.1:g.9092G=
NG_029615.1:g.29899C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1805G= MANE Select	ENSP00000340409.4:p.Arg602=
ENST00000342245.8:c.1805G=	ENSP00000340409.4:p.Arg602=
ENST00000526280.1:c.862G=
ENST00000527275.5:c.1802G=	ENSP00000435350.1:p.Arg601=
ENST00000531303.5:c.*656G=	ENSP00000432625.1:n.*656G=
ENST00000533123.5:c.*532G=	ENSP00000435950.1:n.*532G=
ENST00000534405.5:c.*636G=	ENSP00000434353.1:n.*636G=
NM_000543.4:c.1805G=	NP_000534.3:p.Arg602=
NM_001007593.2:c.1802G=	NP_001007594.2:p.Arg601=
XM_005253075.3:c.*298G=	XP_005253132.1:n.*298G=
XM_011520303.1:c.1673G=	XP_011518605.1:p.Arg558=
XM_011520304.1:c.*298G=	XP_011518606.1:n.*298G=
NM_001318087.1:c.*298G=	NP_001305016.1:n.*298G=
NM_001318088.1:c.884G=	NP_001305017.1:p.Arg295=
NM_001365135.1:c.1673G=	NP_001352064.1:p.Arg558=
NR_027400.2:n.1818G=
NR_134502.1:n.1357G=
XM_011520304.2:c.*298G=	XP_011518606.1:n.*298G=
XR_001747940.2:n.1990G=
XR_002957158.1:n.2172G=
NM_000543.5:c.1805G= MANE Select	NP_000534.3:p.Arg602=
NM_001007593.3:c.1802G=	NP_001007594.2:p.Arg601=
NM_001318087.2:c.*298G=	NP_001305016.1:n.*298G=
NM_001318088.2:c.884G=	NP_001305017.1:p.Arg295=
NM_001365135.2:c.1673G=	NP_001352064.1:p.Arg558=
NR_027400.3:n.1758G=
NR_134502.2:n.1297G=