Canonical Allele Identifier: CA1950150195

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394583G= , CM000673.2:g.6394583G=	GRCh38
NC_000011.9:g.6415813G= , CM000673.1:g.6415813G=	GRCh37
NC_000011.8:g.6372389G=	NCBI36
NG_011780.1:g.9159G=
NG_029615.1:g.29832C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1872G= MANE Select	ENSP00000340409.4:p.Leu624=
ENST00000342245.8:c.1872G=	ENSP00000340409.4:p.Leu624=
ENST00000526280.1:c.929G=
ENST00000527275.5:c.1869G=	ENSP00000435350.1:p.Leu623=
ENST00000531303.5:c.*723G=	ENSP00000432625.1:n.*723G=
ENST00000533123.5:c.*599G=	ENSP00000435950.1:n.*599G=
ENST00000534405.5:c.*703G=	ENSP00000434353.1:n.*703G=
NM_000543.4:c.1872G=	NP_000534.3:p.Leu624=
NM_001007593.2:c.1869G=	NP_001007594.2:p.Leu623=
XM_005253075.3:c.*365G=	XP_005253132.1:n.*365G=
XM_011520303.1:c.1740G=	XP_011518605.1:p.Leu580=
NM_001318087.1:c.*365G=	NP_001305016.1:n.*365G=
NM_001318088.1:c.951G=	NP_001305017.1:p.Leu317=
NM_001365135.1:c.1740G=	NP_001352064.1:p.Leu580=
NR_027400.2:n.1885G=
NR_134502.1:n.1424G=
XR_001747940.2:n.2057G=
XR_002957158.1:n.2239G=
NM_000543.5:c.1872G= MANE Select	NP_000534.3:p.Leu624=
NM_001007593.3:c.1869G=	NP_001007594.2:p.Leu623=
NM_001318087.2:c.*365G=	NP_001305016.1:n.*365G=
NM_001318088.2:c.951G=	NP_001305017.1:p.Leu317=
NM_001365135.2:c.1740G=	NP_001352064.1:p.Leu580=
NR_027400.3:n.1825G=
NR_134502.2:n.1364G=