Canonical Allele Identifier: CA1950150547

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394901G= , CM000673.2:g.6394901G=	GRCh38
NC_000011.9:g.6416131G= , CM000673.1:g.6416131G=	GRCh37
NC_000011.8:g.6372707G=	NCBI36
NG_011780.1:g.9477G=
NG_029615.1:g.29514C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*294G= MANE Select	ENSP00000340409.4:n.*294G=
ENST00000342245.8:c.*294G=	ENSP00000340409.4:n.*294G=
ENST00000526280.1:c.1247G=
ENST00000533123.5:c.*917G=	ENSP00000435950.1:n.*917G=
ENST00000534405.5:c.*1021G=	ENSP00000434353.1:n.*1021G=
NM_000543.4:c.*294G=	NP_000534.3:n.*294G=
NM_001007593.2:c.*294G=	NP_001007594.2:n.*294G=
XM_011520303.1:c.*294G=	XP_011518605.1:n.*294G=
NM_001318087.1:c.*683G=	NP_001305016.1:n.*683G=
NM_001318088.1:c.*294G=	NP_001305017.1:n.*294G=
NM_001365135.1:c.*294G=	NP_001352064.1:n.*294G=
NR_027400.2:n.2203G=
NR_134502.1:n.1742G=
XR_001747940.2:n.2375G=
XR_002957158.1:n.2557G=
NM_000543.5:c.*294G= MANE Select	NP_000534.3:n.*294G=
NM_001007593.3:c.*294G=	NP_001007594.2:n.*294G=
NM_001318087.2:c.*683G=	NP_001305016.1:n.*683G=
NM_001318088.2:c.*294G=	NP_001305017.1:n.*294G=
NM_001365135.2:c.*294G=	NP_001352064.1:n.*294G=
NR_027400.3:n.2143G=
NR_134502.2:n.1682G=