Canonical Allele Identifier: CA472910071

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394358C>T , CM000673.2:g.6394358C>T	GRCh38
NC_000011.9:g.6415588C>T , CM000673.1:g.6415588C>T	GRCh37
NC_000011.8:g.6372164C>T	NCBI36
NG_011780.1:g.8934C>T
NG_029615.1:g.30057G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.1647C>T MANE Select	NP_000534.3:p.Asn549=
ENST00000342245.9:c.1647C>T MANE Select	ENSP00000340409.4:p.Asn549=
NM_000543.4:c.1647C>T	NP_000534.3:p.Asn549=
NM_001007593.2:c.1644C>T	NP_001007594.2:p.Asn548=
NM_001007593.3:c.1644C>T	NP_001007594.2:p.Asn548=
NM_001318087.1:c.*140C>T	NP_001305016.1:n.*140C>T
NM_001318087.2:c.*140C>T	NP_001305016.1:n.*140C>T
NM_001318088.1:c.726C>T	NP_001305017.1:p.Asn242=
NM_001318088.2:c.726C>T	NP_001305017.1:p.Asn242=
NM_001365135.1:c.1515C>T	NP_001352064.1:p.Asn505=
NM_001365135.2:c.1515C>T	NP_001352064.1:p.Asn505=
NR_027400.2:n.1660C>T
NR_027400.3:n.1600C>T
NR_134502.1:n.1199C>T
NR_134502.2:n.1139C>T
ENST00000342245.8:c.1647C>T	ENSP00000340409.4:p.Asn549=
ENST00000526280.1:c.704C>T
ENST00000527275.5:c.1644C>T	ENSP00000435350.1:p.Asn548=
ENST00000531303.5:c.*498C>T	ENSP00000432625.1:n.*498C>T
ENST00000531336.1:n.635C>T
ENST00000533123.5:c.*374C>T	ENSP00000435950.1:n.*374C>T
ENST00000534405.5:c.*478C>T	ENSP00000434353.1:n.*478C>T
XM_005253075.3:c.*140C>T	XP_005253132.1:n.*140C>T
XM_011520303.1:c.1515C>T	XP_011518605.1:p.Asn505=
XM_011520304.1:c.*140C>T	XP_011518606.1:n.*140C>T
XM_011520304.2:c.*140C>T	XP_011518606.1:n.*140C>T
XR_001747940.2:n.1832C>T
XR_002957158.1:n.2014C>T