Canonical Allele Identifier: CA217299412
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs1016577903
gnomAD v2: 11-6412893-G-A
gnomAD v3: 11-6391663-G-A
gnomAD v4: 11-6391663-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6391663G>A , CM000673.2:g.6391663G>A GRCh38
NC_000011.9:g.6412893G>A , CM000673.1:g.6412893G>A GRCh37
NC_000011.8:g.6369469G>A NCBI36
NG_011780.1:g.6239G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.598G>A MANE Select ENSP00000340409.4:p.Val200Ile
ENST00000342245.8:c.598G>A ENSP00000340409.4:p.Val200Ile
ENST00000527275.5:c.595G>A ENSP00000435350.1:p.Val199Ile
ENST00000530395.1:c.-95-127G>A ENSP00000431479.1:n.-95-127G>A
ENST00000531303.5:c.438+160G>A ENSP00000432625.1:n.438+160G>A
ENST00000533123.5:c.598G>A ENSP00000435950.1:p.Val200Ile
ENST00000533196.1:n.375-343G>A
ENST00000534405.5:c.598G>A ENSP00000434353.1:p.Val200Ile
NM_000543.4:c.598G>A NP_000534.3:p.Val200Ile
NM_001007593.2:c.595G>A NP_001007594.2:p.Val199Ile
XM_005253075.3:c.598G>A XP_005253132.1:p.Val200Ile
XM_011520303.1:c.598G>A XP_011518605.1:p.Val200Ile
XM_011520304.1:c.598G>A XP_011518606.1:p.Val200Ile
XR_930886.1:n.896G>A
NM_001318087.1:c.598G>A NP_001305016.1:p.Val200Ile
NM_001318088.1:c.-364G>A NP_001305017.1:n.-364G>A
NM_001365135.1:c.598G>A NP_001352064.1:p.Val200Ile
NR_027400.2:n.783G>A
NR_134502.1:n.623+160G>A
XM_011520304.2:c.598G>A XP_011518606.1:p.Val200Ile
XR_001747940.2:n.723G>A
XR_002957158.1:n.723G>A
NM_000543.5:c.598G>A MANE Select NP_000534.3:p.Val200Ile
NM_001007593.3:c.595G>A NP_001007594.2:p.Val199Ile
NM_001318087.2:c.598G>A NP_001305016.1:p.Val200Ile
NM_001318088.2:c.-364G>A NP_001305017.1:n.-364G>A
NM_001365135.2:c.598G>A NP_001352064.1:p.Val200Ile
NR_027400.3:n.723G>A
NR_134502.2:n.563+160G>A