Canonical Allele Identifier: CA1950149524

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394269A= , CM000673.2:g.6394269A=	GRCh38
NC_000011.9:g.6415499A= , CM000673.1:g.6415499A=	GRCh37
NC_000011.8:g.6372075A=	NCBI36
NG_011780.1:g.8845A=
NG_029615.1:g.30146T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1558A= MANE Select	ENSP00000340409.4:p.Ile520=
ENST00000342245.8:c.1558A=	ENSP00000340409.4:p.Ile520=
ENST00000526280.1:c.615A=
ENST00000527275.5:c.1555A=	ENSP00000435350.1:p.Ile519=
ENST00000531303.5:c.*409A=	ENSP00000432625.1:n.*409A=
ENST00000531336.1:n.546A=
ENST00000533123.5:c.*285A=	ENSP00000435950.1:n.*285A=
ENST00000534405.5:c.*389A=	ENSP00000434353.1:n.*389A=
NM_000543.4:c.1558A=	NP_000534.3:p.Ile520=
NM_001007593.2:c.1555A=	NP_001007594.2:p.Ile519=
XM_005253075.3:c.*51A=	XP_005253132.1:n.*51A=
XM_011520303.1:c.1426A=	XP_011518605.1:p.Ile476=
XM_011520304.1:c.*51A=	XP_011518606.1:n.*51A=
NM_001318087.1:c.*51A=	NP_001305016.1:n.*51A=
NM_001318088.1:c.637A=	NP_001305017.1:p.Ile213=
NM_001365135.1:c.1426A=	NP_001352064.1:p.Ile476=
NR_027400.2:n.1571A=
NR_134502.1:n.1110A=
XM_011520304.2:c.*51A=	XP_011518606.1:n.*51A=
XR_001747940.2:n.1743A=
XR_002957158.1:n.1925A=
NM_000543.5:c.1558A= MANE Select	NP_000534.3:p.Ile520=
NM_001007593.3:c.1555A=	NP_001007594.2:p.Ile519=
NM_001318087.2:c.*51A=	NP_001305016.1:n.*51A=
NM_001318088.2:c.637A=	NP_001305017.1:p.Ile213=
NM_001365135.2:c.1426A=	NP_001352064.1:p.Ile476=
NR_027400.3:n.1511A=
NR_134502.2:n.1050A=