Canonical Allele Identifier: CA472736569
Gene: SMPD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6413297T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6392067T>A , CM000673.2:g.6392067T>A GRCh38
NC_000011.9:g.6413297T>A , CM000673.1:g.6413297T>A GRCh37
NC_000011.8:g.6369873T>A NCBI36
NG_011780.1:g.6643T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.1002T>A MANE Select ENSP00000340409.4:p.Ile334=
ENST00000342245.8:c.1002T>A ENSP00000340409.4:p.Ile334=
ENST00000526280.1:c.191T>A
ENST00000527275.5:c.999T>A ENSP00000435350.1:p.Ile333=
ENST00000531303.5:c.438+564T>A ENSP00000432625.1:n.438+564T>A
ENST00000533123.5:c.1002T>A ENSP00000435950.1:p.Ile334=
ENST00000534405.5:c.1002T>A ENSP00000434353.1:p.Ile334=
NM_000543.4:c.1002T>A NP_000534.3:p.Ile334=
NM_001007593.2:c.999T>A NP_001007594.2:p.Ile333=
XM_005253075.3:c.1002T>A XP_005253132.1:p.Ile334=
XM_011520303.1:c.1002T>A XP_011518605.1:p.Ile334=
XM_011520304.1:c.1002T>A XP_011518606.1:p.Ile334=
XR_930886.1:n.1300T>A
NM_001318087.1:c.1002T>A NP_001305016.1:p.Ile334=
NM_001318088.1:c.41T>A NP_001305017.1:p.Leu14Ter
NM_001365135.1:c.1002T>A NP_001352064.1:p.Ile334=
NR_027400.2:n.1187T>A
NR_134502.1:n.623+564T>A
XM_011520304.2:c.1002T>A XP_011518606.1:p.Ile334=
XR_001747940.2:n.1127T>A
XR_002957158.1:n.1127T>A
NM_000543.5:c.1002T>A MANE Select NP_000534.3:p.Ile334=
NM_001007593.3:c.999T>A NP_001007594.2:p.Ile333=
NM_001318087.2:c.1002T>A NP_001305016.1:p.Ile334=
NM_001318088.2:c.41T>A NP_001305017.1:p.Leu14Ter
NM_001365135.2:c.1002T>A NP_001352064.1:p.Ile334=
NR_027400.3:n.1127T>A
NR_134502.2:n.563+564T>A