Canonical Allele Identifier: CA5852963

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394386G>A , CM000673.2:g.6394386G>A	GRCh38
NC_000011.9:g.6415616G>A , CM000673.1:g.6415616G>A	GRCh37
NC_000011.8:g.6372192G>A	NCBI36
NG_011780.1:g.8962G>A
NG_029615.1:g.30029C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.1675G>A MANE Select	NP_000534.3:p.Val559Ile
ENST00000342245.9:c.1675G>A MANE Select	ENSP00000340409.4:p.Val559Ile
NM_000543.4:c.1675G>A	NP_000534.3:p.Val559Ile
NM_001007593.2:c.1672G>A	NP_001007594.2:p.Val558Ile
NM_001007593.3:c.1672G>A	NP_001007594.2:p.Val558Ile
NM_001318087.1:c.*168G>A	NP_001305016.1:n.*168G>A
NM_001318087.2:c.*168G>A	NP_001305016.1:n.*168G>A
NM_001318088.1:c.754G>A	NP_001305017.1:p.Val252Ile
NM_001318088.2:c.754G>A	NP_001305017.1:p.Val252Ile
NM_001365135.1:c.1543G>A	NP_001352064.1:p.Val515Ile
NM_001365135.2:c.1543G>A	NP_001352064.1:p.Val515Ile
NR_027400.2:n.1688G>A
NR_027400.3:n.1628G>A
NR_134502.1:n.1227G>A
NR_134502.2:n.1167G>A
ENST00000342245.8:c.1675G>A	ENSP00000340409.4:p.Val559Ile
ENST00000526280.1:c.732G>A
ENST00000527275.5:c.1672G>A	ENSP00000435350.1:p.Val558Ile
ENST00000531303.5:c.*526G>A	ENSP00000432625.1:n.*526G>A
ENST00000533123.5:c.*402G>A	ENSP00000435950.1:n.*402G>A
ENST00000534405.5:c.*506G>A	ENSP00000434353.1:n.*506G>A
XM_005253075.3:c.*168G>A	XP_005253132.1:n.*168G>A
XM_011520303.1:c.1543G>A	XP_011518605.1:p.Val515Ile
XM_011520304.1:c.*168G>A	XP_011518606.1:n.*168G>A
XM_011520304.2:c.*168G>A	XP_011518606.1:n.*168G>A
XR_001747940.2:n.1860G>A
XR_002957158.1:n.2042G>A