LDH info

Canonical Allele Identifier: CA16041476
Gene: SMPD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371001
ClinVar RCV Id: RCV000412017
dbSNP Id: rs1057516931

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390797C>T , CM000673.2:g.6390797C>T GRCh38
NC_000011.9:g.6412027C>T , CM000673.1:g.6412027C>T GRCh37
NC_000011.8:g.6368603C>T NCBI36
NG_011780.1:g.5373C>T

Transcript Alleles

HGVS Amino-acid change
NM_000543.4:c.199C>T VV NP_000534.3:p.Gln67Ter
NM_001007593.2:c.199C>T VV NP_001007594.2:p.Gln67Ter
XM_005253075.3:c.199C>T XP_005253132.1:p.Gln67Ter
XM_011520303.1:c.199C>T XP_011518605.1:p.Gln67Ter
XM_011520304.1:c.199C>T XP_011518606.1:p.Gln67Ter
XR_930886.1:n.497C>T
NM_001318087.1:c.199C>T VV NP_001305016.1:p.Gln67Ter
NM_001318088.1:c.-763C>T VV NP_001305017.1:p.=
NM_001365135.1:c.199C>T VV NP_001352064.1:p.Gln67Ter
NR_027400.2:n.384C>T
NR_134502.1:n.384C>T
XM_011520304.2:c.199C>T XP_011518606.1:p.Gln67Ter
XR_001747940.2:n.324C>T
XR_002957158.1:n.324C>T
NM_000543.5:c.199C>T VV MANE Preferred NP_000534.3:p.Gln67Ter
ENST00000342245.8:c.199C>T ENSP00000340409.4:p.Gln67Ter
ENST00000527275.5:c.199C>T ENSP00000435350.1:p.Gln67Ter
ENST00000530395.1:c.-96+158C>T ENSP00000431479.1:p.=
ENST00000531303.5:c.199C>T ENSP00000432625.1:p.Gln67Ter
ENST00000533123.5:c.199C>T ENSP00000435950.1:p.Gln67Ter
ENST00000533196.1:n.358C>T
ENST00000534405.5:c.199C>T ENSP00000434353.1:p.Gln67Ter