Canonical Allele Identifier: CA1950149386

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394229C= , CM000673.2:g.6394229C=	GRCh38
NC_000011.9:g.6415459C= , CM000673.1:g.6415459C=	GRCh37
NC_000011.8:g.6372035C=	NCBI36
NG_011780.1:g.8805C=
NG_029615.1:g.30186G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1518C= MANE Select	ENSP00000340409.4:p.Tyr506=
ENST00000342245.8:c.1518C=	ENSP00000340409.4:p.Tyr506=
ENST00000526280.1:c.575C=
ENST00000527275.5:c.1515C=	ENSP00000435350.1:p.Tyr505=
ENST00000531303.5:c.*369C=	ENSP00000432625.1:n.*369C=
ENST00000531336.1:n.506C=
ENST00000533123.5:c.*245C=	ENSP00000435950.1:n.*245C=
ENST00000534405.5:c.*349C=	ENSP00000434353.1:n.*349C=
NM_000543.4:c.1518C=	NP_000534.3:p.Tyr506=
NM_001007593.2:c.1515C=	NP_001007594.2:p.Tyr505=
XM_005253075.3:c.*11C=	XP_005253132.1:n.*11C=
XM_011520303.1:c.1386C=	XP_011518605.1:p.Tyr462=
XM_011520304.1:c.*11C=	XP_011518606.1:n.*11C=
NM_001318087.1:c.*11C=	NP_001305016.1:n.*11C=
NM_001318088.1:c.597C=	NP_001305017.1:p.Tyr199=
NM_001365135.1:c.1386C=	NP_001352064.1:p.Tyr462=
NR_027400.2:n.1531C=
NR_134502.1:n.1070C=
XM_011520304.2:c.*11C=	XP_011518606.1:n.*11C=
XR_001747940.2:n.1703C=
XR_002957158.1:n.1885C=
NM_000543.5:c.1518C= MANE Select	NP_000534.3:p.Tyr506=
NM_001007593.3:c.1515C=	NP_001007594.2:p.Tyr505=
NM_001318087.2:c.*11C=	NP_001305016.1:n.*11C=
NM_001318088.2:c.597C=	NP_001305017.1:p.Tyr199=
NM_001365135.2:c.1386C=	NP_001352064.1:p.Tyr462=
NR_027400.3:n.1471C=
NR_134502.2:n.1010C=