Canonical Allele Identifier: CA379371586
Gene: SMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6392065A>C , CM000673.2:g.6392065A>C GRCh38
NC_000011.9:g.6413295A>C , CM000673.1:g.6413295A>C GRCh37
NC_000011.8:g.6369871A>C NCBI36
NG_011780.1:g.6641A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.1000A>C MANE Select ENSP00000340409.4:p.Ile334Leu
ENST00000342245.8:c.1000A>C ENSP00000340409.4:p.Ile334Leu
ENST00000526280.1:c.189A>C
ENST00000527275.5:c.997A>C ENSP00000435350.1:p.Ile333Leu
ENST00000531303.5:c.438+562A>C ENSP00000432625.1:n.438+562A>C
ENST00000533123.5:c.1000A>C ENSP00000435950.1:p.Ile334Leu
ENST00000534405.5:c.1000A>C ENSP00000434353.1:p.Ile334Leu
NM_000543.4:c.1000A>C NP_000534.3:p.Ile334Leu
NM_001007593.2:c.997A>C NP_001007594.2:p.Ile333Leu
XM_005253075.3:c.1000A>C XP_005253132.1:p.Ile334Leu
XM_011520303.1:c.1000A>C XP_011518605.1:p.Ile334Leu
XM_011520304.1:c.1000A>C XP_011518606.1:p.Ile334Leu
XR_930886.1:n.1298A>C
NM_001318087.1:c.1000A>C NP_001305016.1:p.Ile334Leu
NM_001318088.1:c.39A>C NP_001305017.1:p.Ser13=
NM_001365135.1:c.1000A>C NP_001352064.1:p.Ile334Leu
NR_027400.2:n.1185A>C
NR_134502.1:n.623+562A>C
XM_011520304.2:c.1000A>C XP_011518606.1:p.Ile334Leu
XR_001747940.2:n.1125A>C
XR_002957158.1:n.1125A>C
NM_000543.5:c.1000A>C MANE Select NP_000534.3:p.Ile334Leu
NM_001007593.3:c.997A>C NP_001007594.2:p.Ile333Leu
NM_001318087.2:c.1000A>C NP_001305016.1:p.Ile334Leu
NM_001318088.2:c.39A>C NP_001305017.1:p.Ser13=
NM_001365135.2:c.1000A>C NP_001352064.1:p.Ile334Leu
NR_027400.3:n.1125A>C
NR_134502.2:n.563+562A>C