Canonical Allele Identifier: CA1950150158

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394557G= , CM000673.2:g.6394557G=	GRCh38
NC_000011.9:g.6415787G= , CM000673.1:g.6415787G=	GRCh37
NC_000011.8:g.6372363G=	NCBI36
NG_011780.1:g.9133G=
NG_029615.1:g.29858C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1846G= MANE Select	ENSP00000340409.4:p.Gly616=
ENST00000342245.8:c.1846G=	ENSP00000340409.4:p.Gly616=
ENST00000526280.1:c.903G=
ENST00000527275.5:c.1843G=	ENSP00000435350.1:p.Gly615=
ENST00000531303.5:c.*697G=	ENSP00000432625.1:n.*697G=
ENST00000533123.5:c.*573G=	ENSP00000435950.1:n.*573G=
ENST00000534405.5:c.*677G=	ENSP00000434353.1:n.*677G=
NM_000543.4:c.1846G=	NP_000534.3:p.Gly616=
NM_001007593.2:c.1843G=	NP_001007594.2:p.Gly615=
XM_005253075.3:c.*339G=	XP_005253132.1:n.*339G=
XM_011520303.1:c.1714G=	XP_011518605.1:p.Gly572=
XM_011520304.1:c.*339G=	XP_011518606.1:n.*339G=
NM_001318087.1:c.*339G=	NP_001305016.1:n.*339G=
NM_001318088.1:c.925G=	NP_001305017.1:p.Gly309=
NM_001365135.1:c.1714G=	NP_001352064.1:p.Gly572=
NR_027400.2:n.1859G=
NR_134502.1:n.1398G=
XM_011520304.2:c.*339G=	XP_011518606.1:n.*339G=
XR_001747940.2:n.2031G=
XR_002957158.1:n.2213G=
NM_000543.5:c.1846G= MANE Select	NP_000534.3:p.Gly616=
NM_001007593.3:c.1843G=	NP_001007594.2:p.Gly615=
NM_001318087.2:c.*339G=	NP_001305016.1:n.*339G=
NM_001318088.2:c.925G=	NP_001305017.1:p.Gly309=
NM_001365135.2:c.1714G=	NP_001352064.1:p.Gly572=
NR_027400.3:n.1799G=
NR_134502.2:n.1338G=