Canonical Allele Identifier: CA1950149836

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394402G= , CM000673.2:g.6394402G=	GRCh38
NC_000011.9:g.6415632G= , CM000673.1:g.6415632G=	GRCh37
NC_000011.8:g.6372208G=	NCBI36
NG_011780.1:g.8978G=
NG_029615.1:g.30013C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1691G= MANE Select	ENSP00000340409.4:p.Gly564=
ENST00000342245.8:c.1691G=	ENSP00000340409.4:p.Gly564=
ENST00000526280.1:c.748G=
ENST00000527275.5:c.1688G=	ENSP00000435350.1:p.Gly563=
ENST00000531303.5:c.*542G=	ENSP00000432625.1:n.*542G=
ENST00000533123.5:c.*418G=	ENSP00000435950.1:n.*418G=
ENST00000534405.5:c.*522G=	ENSP00000434353.1:n.*522G=
NM_000543.4:c.1691G=	NP_000534.3:p.Gly564=
NM_001007593.2:c.1688G=	NP_001007594.2:p.Gly563=
XM_005253075.3:c.*184G=	XP_005253132.1:n.*184G=
XM_011520303.1:c.1559G=	XP_011518605.1:p.Gly520=
XM_011520304.1:c.*184G=	XP_011518606.1:n.*184G=
NM_001318087.1:c.*184G=	NP_001305016.1:n.*184G=
NM_001318088.1:c.770G=	NP_001305017.1:p.Gly257=
NM_001365135.1:c.1559G=	NP_001352064.1:p.Gly520=
NR_027400.2:n.1704G=
NR_134502.1:n.1243G=
XM_011520304.2:c.*184G=	XP_011518606.1:n.*184G=
XR_001747940.2:n.1876G=
XR_002957158.1:n.2058G=
NM_000543.5:c.1691G= MANE Select	NP_000534.3:p.Gly564=
NM_001007593.3:c.1688G=	NP_001007594.2:p.Gly563=
NM_001318087.2:c.*184G=	NP_001305016.1:n.*184G=
NM_001318088.2:c.770G=	NP_001305017.1:p.Gly257=
NM_001365135.2:c.1559G=	NP_001352064.1:p.Gly520=
NR_027400.3:n.1644G=
NR_134502.2:n.1183G=