Canonical Allele Identifier: CA1950147720
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs1848012702

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393207T>C , CM000673.2:g.6393207T>C GRCh38
NC_000011.9:g.6414437T>C , CM000673.1:g.6414437T>C GRCh37
NC_000011.8:g.6371013T>C NCBI36
NG_011780.1:g.7783T>C
NG_029615.1:g.31208A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.1092-9T>C MANE Select ENSP00000340409.4:n.1092-9T>C
ENST00000342245.8:c.1092-9T>C ENSP00000340409.4:n.1092-9T>C
ENST00000526280.1:c.321-410T>C
ENST00000527275.5:c.1089-9T>C ENSP00000435350.1:n.1089-9T>C
ENST00000531303.5:c.439-9T>C ENSP00000432625.1:n.439-9T>C
ENST00000533123.5:c.1092-410T>C ENSP00000435950.1:n.1092-410T>C
ENST00000534405.5:c.1132-9T>C ENSP00000434353.1:n.1132-9T>C
NM_000543.4:c.1092-9T>C NP_000534.3:n.1092-9T>C
NM_001007593.2:c.1089-9T>C NP_001007594.2:n.1089-9T>C
XM_005253075.3:c.1092-9T>C XP_005253132.1:n.1092-9T>C
XM_011520303.1:c.1132-410T>C XP_011518605.1:n.1132-410T>C
XM_011520304.1:c.1132-410T>C XP_011518606.1:n.1132-410T>C
XR_930886.1:n.1430-9T>C
NM_001318087.1:c.1092-9T>C NP_001305016.1:n.1092-9T>C
NM_001318088.1:c.171-9T>C NP_001305017.1:n.171-9T>C
NM_001365135.1:c.1132-410T>C NP_001352064.1:n.1132-410T>C
NR_027400.2:n.1277-410T>C
NR_134502.1:n.624-9T>C
XM_011520304.2:c.1132-410T>C XP_011518606.1:n.1132-410T>C
XR_001747940.2:n.1257-9T>C
XR_002957158.1:n.1257-9T>C
NM_000543.5:c.1092-9T>C MANE Select NP_000534.3:n.1092-9T>C
NM_001007593.3:c.1089-9T>C NP_001007594.2:n.1089-9T>C
NM_001318087.2:c.1092-9T>C NP_001305016.1:n.1092-9T>C
NM_001318088.2:c.171-9T>C NP_001305017.1:n.171-9T>C
NM_001365135.2:c.1132-410T>C NP_001352064.1:n.1132-410T>C
NR_027400.3:n.1217-410T>C
NR_134502.2:n.564-9T>C