Canonical Allele Identifier: CA1950149544

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394278C= , CM000673.2:g.6394278C=	GRCh38
NC_000011.9:g.6415508C= , CM000673.1:g.6415508C=	GRCh37
NC_000011.8:g.6372084C=	NCBI36
NG_011780.1:g.8854C=
NG_029615.1:g.30137G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1567C= MANE Select	ENSP00000340409.4:p.Leu523=
ENST00000342245.8:c.1567C=	ENSP00000340409.4:p.Leu523=
ENST00000526280.1:c.624C=
ENST00000527275.5:c.1564C=	ENSP00000435350.1:p.Leu522=
ENST00000531303.5:c.*418C=	ENSP00000432625.1:n.*418C=
ENST00000531336.1:n.555C=
ENST00000533123.5:c.*294C=	ENSP00000435950.1:n.*294C=
ENST00000534405.5:c.*398C=	ENSP00000434353.1:n.*398C=
NM_000543.4:c.1567C=	NP_000534.3:p.Leu523=
NM_001007593.2:c.1564C=	NP_001007594.2:p.Leu522=
XM_005253075.3:c.*60C=	XP_005253132.1:n.*60C=
XM_011520303.1:c.1435C=	XP_011518605.1:p.Leu479=
XM_011520304.1:c.*60C=	XP_011518606.1:n.*60C=
NM_001318087.1:c.*60C=	NP_001305016.1:n.*60C=
NM_001318088.1:c.646C=	NP_001305017.1:p.Leu216=
NM_001365135.1:c.1435C=	NP_001352064.1:p.Leu479=
NR_027400.2:n.1580C=
NR_134502.1:n.1119C=
XM_011520304.2:c.*60C=	XP_011518606.1:n.*60C=
XR_001747940.2:n.1752C=
XR_002957158.1:n.1934C=
NM_000543.5:c.1567C= MANE Select	NP_000534.3:p.Leu523=
NM_001007593.3:c.1564C=	NP_001007594.2:p.Leu522=
NM_001318087.2:c.*60C=	NP_001305016.1:n.*60C=
NM_001318088.2:c.646C=	NP_001305017.1:p.Leu216=
NM_001365135.2:c.1435C=	NP_001352064.1:p.Leu479=
NR_027400.3:n.1520C=
NR_134502.2:n.1059C=