Canonical Allele Identifier: CA379375839
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs1390970728
gnomAD v2: 11-6415446-T-C
gnomAD v3: 11-6394216-T-C
gnomAD v4: 11-6394216-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6394216T>C , CM000673.2:g.6394216T>C GRCh38
NC_000011.9:g.6415446T>C , CM000673.1:g.6415446T>C GRCh37
NC_000011.8:g.6372022T>C NCBI36
NG_011780.1:g.8792T>C
NG_029615.1:g.30199A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.1505T>C MANE Select ENSP00000340409.4:p.Ile502Thr
ENST00000342245.8:c.1505T>C ENSP00000340409.4:p.Ile502Thr
ENST00000526280.1:c.562T>C
ENST00000527275.5:c.1502T>C ENSP00000435350.1:p.Ile501Thr
ENST00000531303.5:c.*356T>C ENSP00000432625.1:n.*356T>C
ENST00000531336.1:n.493T>C
ENST00000533123.5:c.*232T>C ENSP00000435950.1:n.*232T>C
ENST00000534405.5:c.*336T>C ENSP00000434353.1:n.*336T>C
NM_000543.4:c.1505T>C NP_000534.3:p.Ile502Thr
NM_001007593.2:c.1502T>C NP_001007594.2:p.Ile501Thr
XM_005253075.3:c.1525T>C XP_005253132.1:p.Ter509Gln
XM_011520303.1:c.1373T>C XP_011518605.1:p.Ile458Thr
XM_011520304.1:c.1393T>C XP_011518606.1:p.Ter465Gln
NM_001318087.1:c.1525T>C NP_001305016.1:p.Ter509Gln
NM_001318088.1:c.584T>C NP_001305017.1:p.Ile195Thr
NM_001365135.1:c.1373T>C NP_001352064.1:p.Ile458Thr
NR_027400.2:n.1518T>C
NR_134502.1:n.1057T>C
XM_011520304.2:c.1393T>C XP_011518606.1:p.Ter465Gln
XR_001747940.2:n.1690T>C
XR_002957158.1:n.1872T>C
NM_000543.5:c.1505T>C MANE Select NP_000534.3:p.Ile502Thr
NM_001007593.3:c.1502T>C NP_001007594.2:p.Ile501Thr
NM_001318087.2:c.1525T>C NP_001305016.1:p.Ter509Gln
NM_001318088.2:c.584T>C NP_001305017.1:p.Ile195Thr
NM_001365135.2:c.1373T>C NP_001352064.1:p.Ile458Thr
NR_027400.3:n.1458T>C
NR_134502.2:n.997T>C