Canonical Allele Identifier: CA1950149513

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394267A= , CM000673.2:g.6394267A=	GRCh38
NC_000011.9:g.6415497A= , CM000673.1:g.6415497A=	GRCh37
NC_000011.8:g.6372073A=	NCBI36
NG_011780.1:g.8843A=
NG_029615.1:g.30148T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1556A= MANE Select	ENSP00000340409.4:p.Tyr519=
ENST00000342245.8:c.1556A=	ENSP00000340409.4:p.Tyr519=
ENST00000526280.1:c.613A=
ENST00000527275.5:c.1553A=	ENSP00000435350.1:p.Tyr518=
ENST00000531303.5:c.*407A=	ENSP00000432625.1:n.*407A=
ENST00000531336.1:n.544A=
ENST00000533123.5:c.*283A=	ENSP00000435950.1:n.*283A=
ENST00000534405.5:c.*387A=	ENSP00000434353.1:n.*387A=
NM_000543.4:c.1556A=	NP_000534.3:p.Tyr519=
NM_001007593.2:c.1553A=	NP_001007594.2:p.Tyr518=
XM_005253075.3:c.*49A=	XP_005253132.1:n.*49A=
XM_011520303.1:c.1424A=	XP_011518605.1:p.Tyr475=
XM_011520304.1:c.*49A=	XP_011518606.1:n.*49A=
NM_001318087.1:c.*49A=	NP_001305016.1:n.*49A=
NM_001318088.1:c.635A=	NP_001305017.1:p.Tyr212=
NM_001365135.1:c.1424A=	NP_001352064.1:p.Tyr475=
NR_027400.2:n.1569A=
NR_134502.1:n.1108A=
XM_011520304.2:c.*49A=	XP_011518606.1:n.*49A=
XR_001747940.2:n.1741A=
XR_002957158.1:n.1923A=
NM_000543.5:c.1556A= MANE Select	NP_000534.3:p.Tyr519=
NM_001007593.3:c.1553A=	NP_001007594.2:p.Tyr518=
NM_001318087.2:c.*49A=	NP_001305016.1:n.*49A=
NM_001318088.2:c.635A=	NP_001305017.1:p.Tyr212=
NM_001365135.2:c.1424A=	NP_001352064.1:p.Tyr475=
NR_027400.3:n.1509A=
NR_134502.2:n.1048A=