Canonical Allele Identifier: CA2841005936

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391523dup , CM000673.2:g.6391523dup	GRCh38
NC_000011.9:g.6412753dup , CM000673.1:g.6412753dup	GRCh37
NC_000011.8:g.6369329dup	NCBI36
NG_011780.1:g.6099dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.458dup MANE Select	ENSP00000340409.4:p.Ser154GlufsTer4
ENST00000342245.8:c.458dup	ENSP00000340409.4:p.Ser154GlufsTer4
ENST00000527275.5:c.455dup	ENSP00000435350.1:p.Ser153GlufsTer4
ENST00000530395.1:c.-95-267dup	ENSP00000431479.1:n.-95-267dup
ENST00000531303.5:c.438+20dup	ENSP00000432625.1:n.438+20dup
ENST00000533123.5:c.458dup	ENSP00000435950.1:p.Ser154GlufsTer4
ENST00000533196.1:n.375-483dup
ENST00000534405.5:c.458dup	ENSP00000434353.1:p.Ser154GlufsTer4
NM_000543.4:c.458dup	NP_000534.3:p.Ser154GlufsTer4
NM_001007593.2:c.455dup	NP_001007594.2:p.Ser153GlufsTer4
XM_005253075.3:c.458dup	XP_005253132.1:p.Ser154GlufsTer4
XM_011520303.1:c.458dup	XP_011518605.1:p.Ser154GlufsTer4
XM_011520304.1:c.458dup	XP_011518606.1:p.Ser154GlufsTer4
XR_930886.1:n.756dup
NM_001318087.1:c.458dup	NP_001305016.1:p.Ser154GlufsTer4
NM_001318088.1:c.-504dup	NP_001305017.1:n.-504dup
NM_001365135.1:c.458dup	NP_001352064.1:p.Ser154GlufsTer4
NR_027400.2:n.643dup
NR_134502.1:n.623+20dup
XM_011520304.2:c.458dup	XP_011518606.1:p.Ser154GlufsTer4
XR_001747940.2:n.583dup
XR_002957158.1:n.583dup
NM_000543.5:c.458dup MANE Select	NP_000534.3:p.Ser154GlufsTer4
NM_001007593.3:c.455dup	NP_001007594.2:p.Ser153GlufsTer4
NM_001318087.2:c.458dup	NP_001305016.1:p.Ser154GlufsTer4
NM_001318088.2:c.-504dup	NP_001305017.1:n.-504dup
NM_001365135.2:c.458dup	NP_001352064.1:p.Ser154GlufsTer4
NR_027400.3:n.583dup
NR_134502.2:n.563+20dup