Canonical Allele Identifier: CA16042855
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372512
ClinVar RCV Id: RCV000414036
dbSNP Id: rs1057517826
MyVariant Identifiers: chr11:g.6415503T>G (hg19) chr11:g.6394273T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6394273T>G , CM000673.2:g.6394273T>G GRCh38
NC_000011.9:g.6415503T>G , CM000673.1:g.6415503T>G GRCh37
NC_000011.8:g.6372079T>G NCBI36
NG_011780.1:g.8849T>G
NG_029615.1:g.30142A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.1562T>G MANE Select ENSP00000340409.4:p.Leu521Arg
ENST00000342245.8:c.1562T>G ENSP00000340409.4:p.Leu521Arg
ENST00000526280.1:c.619T>G
ENST00000527275.5:c.1559T>G ENSP00000435350.1:p.Leu520Arg
ENST00000531303.5:c.*413T>G ENSP00000432625.1:n.*413T>G
ENST00000531336.1:n.550T>G
ENST00000533123.5:c.*289T>G ENSP00000435950.1:n.*289T>G
ENST00000534405.5:c.*393T>G ENSP00000434353.1:n.*393T>G
NM_000543.4:c.1562T>G NP_000534.3:p.Leu521Arg
NM_001007593.2:c.1559T>G NP_001007594.2:p.Leu520Arg
XM_005253075.3:c.*55T>G XP_005253132.1:n.*55T>G
XM_011520303.1:c.1430T>G XP_011518605.1:p.Leu477Arg
XM_011520304.1:c.*55T>G XP_011518606.1:n.*55T>G
NM_001318087.1:c.*55T>G NP_001305016.1:n.*55T>G
NM_001318088.1:c.641T>G NP_001305017.1:p.Leu214Arg
NM_001365135.1:c.1430T>G NP_001352064.1:p.Leu477Arg
NR_027400.2:n.1575T>G
NR_134502.1:n.1114T>G
XM_011520304.2:c.*55T>G XP_011518606.1:n.*55T>G
XR_001747940.2:n.1747T>G
XR_002957158.1:n.1929T>G
NM_000543.5:c.1562T>G MANE Select NP_000534.3:p.Leu521Arg
NM_001007593.3:c.1559T>G NP_001007594.2:p.Leu520Arg
NM_001318087.2:c.*55T>G NP_001305016.1:n.*55T>G
NM_001318088.2:c.641T>G NP_001305017.1:p.Leu214Arg
NM_001365135.2:c.1430T>G NP_001352064.1:p.Leu477Arg
NR_027400.3:n.1515T>G
NR_134502.2:n.1054T>G
Search 100 bp 5'
Search 100 bp 3'