Canonical Allele Identifier: CA1950149585

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394298G= , CM000673.2:g.6394298G=	GRCh38
NC_000011.9:g.6415528G= , CM000673.1:g.6415528G=	GRCh37
NC_000011.8:g.6372104G=	NCBI36
NG_011780.1:g.8874G=
NG_029615.1:g.30117C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1587G= MANE Select	ENSP00000340409.4:p.Pro529=
ENST00000342245.8:c.1587G=	ENSP00000340409.4:p.Pro529=
ENST00000526280.1:c.644G=
ENST00000527275.5:c.1584G=	ENSP00000435350.1:p.Pro528=
ENST00000531303.5:c.*438G=	ENSP00000432625.1:n.*438G=
ENST00000531336.1:n.575G=
ENST00000533123.5:c.*314G=	ENSP00000435950.1:n.*314G=
ENST00000534405.5:c.*418G=	ENSP00000434353.1:n.*418G=
NM_000543.4:c.1587G=	NP_000534.3:p.Pro529=
NM_001007593.2:c.1584G=	NP_001007594.2:p.Pro528=
XM_005253075.3:c.*80G=	XP_005253132.1:n.*80G=
XM_011520303.1:c.1455G=	XP_011518605.1:p.Pro485=
XM_011520304.1:c.*80G=	XP_011518606.1:n.*80G=
NM_001318087.1:c.*80G=	NP_001305016.1:n.*80G=
NM_001318088.1:c.666G=	NP_001305017.1:p.Pro222=
NM_001365135.1:c.1455G=	NP_001352064.1:p.Pro485=
NR_027400.2:n.1600G=
NR_134502.1:n.1139G=
XM_011520304.2:c.*80G=	XP_011518606.1:n.*80G=
XR_001747940.2:n.1772G=
XR_002957158.1:n.1954G=
NM_000543.5:c.1587G= MANE Select	NP_000534.3:p.Pro529=
NM_001007593.3:c.1584G=	NP_001007594.2:p.Pro528=
NM_001318087.2:c.*80G=	NP_001305016.1:n.*80G=
NM_001318088.2:c.666G=	NP_001305017.1:p.Pro222=
NM_001365135.2:c.1455G=	NP_001352064.1:p.Pro485=
NR_027400.3:n.1540G=
NR_134502.2:n.1079G=