Canonical Allele Identifier: CA4930988

Linked Data

ClinVar Variation Id: 788262
ClinVar RCV Id: RCV002547305
dbSNP Id: rs776933028

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144051385G>A , CM000670.2:g.144051385G>A GRCh38
NC_000008.10:g.145106286G>A , CM000670.1:g.145106286G>A GRCh37
NC_000008.9:g.145178274G>A NCBI36
NG_032671.1:g.14297C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000686861.1:n.608G>A (SMPD5)
ENST00000687871.1:n.856G>A (SMPD5)
ENST00000689734.1:n.856G>A (SMPD5)
ENST00000691496.1:n.693G>A (SMPD5)
ENST00000693651.1:n.857G>A (SMPD5)
ENST00000528912.1:n.1253G>A (SMPD5)
ENST00000618853.5:c.3808C>T (OPLAH) MANE Select ENSP00000480476.1:p.Leu1270=
ENST00000618853.4:c.3808C>T (OPLAH) ENSP00000480476.1:p.Leu1270=
NM_017570.4:c.3808C>T (OPLAH) NP_060040.1:p.Leu1270=
XM_011516960.1:c.4096C>T (OPLAH) XP_011515262.1:p.Leu1366=
NM_017570.5:c.3808C>T (OPLAH) MANE Select NP_060040.1:p.Leu1270=