Canonical Allele Identifier: CA379369510

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6412771G>T (hg19) ; chr11:g.6391541G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391541G>T , CM000673.2:g.6391541G>T	GRCh38
NC_000011.9:g.6412771G>T , CM000673.1:g.6412771G>T	GRCh37
NC_000011.8:g.6369347G>T	NCBI36
NG_011780.1:g.6117G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.476G>T MANE Select	ENSP00000340409.4:p.Cys159Phe
ENST00000342245.8:c.476G>T	ENSP00000340409.4:p.Cys159Phe
ENST00000527275.5:c.473G>T	ENSP00000435350.1:p.Cys158Phe
ENST00000530395.1:c.-95-249G>T	ENSP00000431479.1:n.-95-249G>T
ENST00000531303.5:c.438+38G>T	ENSP00000432625.1:n.438+38G>T
ENST00000533123.5:c.476G>T	ENSP00000435950.1:p.Cys159Phe
ENST00000533196.1:n.375-465G>T
ENST00000534405.5:c.476G>T	ENSP00000434353.1:p.Cys159Phe
NM_000543.4:c.476G>T	NP_000534.3:p.Cys159Phe
NM_001007593.2:c.473G>T	NP_001007594.2:p.Cys158Phe
XM_005253075.3:c.476G>T	XP_005253132.1:p.Cys159Phe
XM_011520303.1:c.476G>T	XP_011518605.1:p.Cys159Phe
XM_011520304.1:c.476G>T	XP_011518606.1:p.Cys159Phe
XR_930886.1:n.774G>T
NM_001318087.1:c.476G>T	NP_001305016.1:p.Cys159Phe
NM_001318088.1:c.-486G>T	NP_001305017.1:n.-486G>T
NM_001365135.1:c.476G>T	NP_001352064.1:p.Cys159Phe
NR_027400.2:n.661G>T
NR_134502.1:n.623+38G>T
XM_011520304.2:c.476G>T	XP_011518606.1:p.Cys159Phe
XR_001747940.2:n.601G>T
XR_002957158.1:n.601G>T
NM_000543.5:c.476G>T MANE Select	NP_000534.3:p.Cys159Phe
NM_001007593.3:c.473G>T	NP_001007594.2:p.Cys158Phe
NM_001318087.2:c.476G>T	NP_001305016.1:p.Cys159Phe
NM_001318088.2:c.-486G>T	NP_001305017.1:n.-486G>T
NM_001365135.2:c.476G>T	NP_001352064.1:p.Cys159Phe
NR_027400.3:n.601G>T
NR_134502.2:n.563+38G>T