Canonical Allele Identifier: CA1950149859

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394409G= , CM000673.2:g.6394409G=	GRCh38
NC_000011.9:g.6415639G= , CM000673.1:g.6415639G=	GRCh37
NC_000011.8:g.6372215G=	NCBI36
NG_011780.1:g.8985G=
NG_029615.1:g.30006C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1698G= MANE Select	ENSP00000340409.4:p.Met566=
ENST00000342245.8:c.1698G=	ENSP00000340409.4:p.Met566=
ENST00000526280.1:c.755G=
ENST00000527275.5:c.1695G=	ENSP00000435350.1:p.Met565=
ENST00000531303.5:c.*549G=	ENSP00000432625.1:n.*549G=
ENST00000533123.5:c.*425G=	ENSP00000435950.1:n.*425G=
ENST00000534405.5:c.*529G=	ENSP00000434353.1:n.*529G=
NM_000543.4:c.1698G=	NP_000534.3:p.Met566=
NM_001007593.2:c.1695G=	NP_001007594.2:p.Met565=
XM_005253075.3:c.*191G=	XP_005253132.1:n.*191G=
XM_011520303.1:c.1566G=	XP_011518605.1:p.Met522=
XM_011520304.1:c.*191G=	XP_011518606.1:n.*191G=
NM_001318087.1:c.*191G=	NP_001305016.1:n.*191G=
NM_001318088.1:c.777G=	NP_001305017.1:p.Met259=
NM_001365135.1:c.1566G=	NP_001352064.1:p.Met522=
NR_027400.2:n.1711G=
NR_134502.1:n.1250G=
XM_011520304.2:c.*191G=	XP_011518606.1:n.*191G=
XR_001747940.2:n.1883G=
XR_002957158.1:n.2065G=
NM_000543.5:c.1698G= MANE Select	NP_000534.3:p.Met566=
NM_001007593.3:c.1695G=	NP_001007594.2:p.Met565=
NM_001318087.2:c.*191G=	NP_001305016.1:n.*191G=
NM_001318088.2:c.777G=	NP_001305017.1:p.Met259=
NM_001365135.2:c.1566G=	NP_001352064.1:p.Met522=
NR_027400.3:n.1651G=
NR_134502.2:n.1190G=