Canonical Allele Identifier: CA1950149521

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394268C= , CM000673.2:g.6394268C=	GRCh38
NC_000011.9:g.6415498C= , CM000673.1:g.6415498C=	GRCh37
NC_000011.8:g.6372074C=	NCBI36
NG_011780.1:g.8844C=
NG_029615.1:g.30147G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1557C= MANE Select	ENSP00000340409.4:p.Tyr519=
ENST00000342245.8:c.1557C=	ENSP00000340409.4:p.Tyr519=
ENST00000526280.1:c.614C=
ENST00000527275.5:c.1554C=	ENSP00000435350.1:p.Tyr518=
ENST00000531303.5:c.*408C=	ENSP00000432625.1:n.*408C=
ENST00000531336.1:n.545C=
ENST00000533123.5:c.*284C=	ENSP00000435950.1:n.*284C=
ENST00000534405.5:c.*388C=	ENSP00000434353.1:n.*388C=
NM_000543.4:c.1557C=	NP_000534.3:p.Tyr519=
NM_001007593.2:c.1554C=	NP_001007594.2:p.Tyr518=
XM_005253075.3:c.*50C=	XP_005253132.1:n.*50C=
XM_011520303.1:c.1425C=	XP_011518605.1:p.Tyr475=
XM_011520304.1:c.*50C=	XP_011518606.1:n.*50C=
NM_001318087.1:c.*50C=	NP_001305016.1:n.*50C=
NM_001318088.1:c.636C=	NP_001305017.1:p.Tyr212=
NM_001365135.1:c.1425C=	NP_001352064.1:p.Tyr475=
NR_027400.2:n.1570C=
NR_134502.1:n.1109C=
XM_011520304.2:c.*50C=	XP_011518606.1:n.*50C=
XR_001747940.2:n.1742C=
XR_002957158.1:n.1924C=
NM_000543.5:c.1557C= MANE Select	NP_000534.3:p.Tyr519=
NM_001007593.3:c.1554C=	NP_001007594.2:p.Tyr518=
NM_001318087.2:c.*50C=	NP_001305016.1:n.*50C=
NM_001318088.2:c.636C=	NP_001305017.1:p.Tyr212=
NM_001365135.2:c.1425C=	NP_001352064.1:p.Tyr475=
NR_027400.3:n.1510C=
NR_134502.2:n.1049C=