Canonical Allele Identifier: CA1950149094

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394026A= , CM000673.2:g.6394026A=	GRCh38
NC_000011.9:g.6415256A= , CM000673.1:g.6415256A=	GRCh37
NC_000011.8:g.6371832A=	NCBI36
NG_011780.1:g.8602A=
NG_029615.1:g.30389T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1471A= MANE Select	ENSP00000340409.4:p.Ile491=
ENST00000342245.8:c.1471A=	ENSP00000340409.4:p.Ile491=
ENST00000526280.1:c.528A=
ENST00000527275.5:c.1468A=	ENSP00000435350.1:p.Ile490=
ENST00000531303.5:c.*302A=	ENSP00000432625.1:n.*302A=
ENST00000531336.1:n.303A=
ENST00000532367.1:n.307A=
ENST00000533123.5:c.*198A=	ENSP00000435950.1:n.*198A=
ENST00000534405.5:c.*302A=	ENSP00000434353.1:n.*302A=
NM_000543.4:c.1471A=	NP_000534.3:p.Ile491=
NM_001007593.2:c.1468A=	NP_001007594.2:p.Ile490=
XM_005253075.3:c.1471A=	XP_005253132.1:p.Ile491=
XM_011520303.1:c.1339A=	XP_011518605.1:p.Ile447=
XM_011520304.1:c.1339A=	XP_011518606.1:p.Ile447=
XR_930886.1:n.1809A=
NM_001318087.1:c.1471A=	NP_001305016.1:p.Ile491=
NM_001318088.1:c.550A=	NP_001305017.1:p.Ile184=
NM_001365135.1:c.1339A=	NP_001352064.1:p.Ile447=
NR_027400.2:n.1484A=
NR_134502.1:n.1003A=
XM_011520304.2:c.1339A=	XP_011518606.1:p.Ile447=
XR_001747940.2:n.1636A=
XR_002957158.1:n.1838A=
NM_000543.5:c.1471A= MANE Select	NP_000534.3:p.Ile491=
NM_001007593.3:c.1468A=	NP_001007594.2:p.Ile490=
NM_001318087.2:c.1471A=	NP_001305016.1:p.Ile491=
NM_001318088.2:c.550A=	NP_001305017.1:p.Ile184=
NM_001365135.2:c.1339A=	NP_001352064.1:p.Ile447=
NR_027400.3:n.1424A=
NR_134502.2:n.943A=