LDH info

Canonical Allele Identifier: CA190729894
Gene: CDKN2A HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs104894104
COSMIC: COSM13713

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971019G>A , CM000671.2:g.21971019G>A GRCh38
NC_000009.11:g.21971018G>A , CM000671.1:g.21971018G>A GRCh37
NC_000009.10:g.21961018G>A NCBI36
NG_007485.1:g.28473C>T , LRG_11:g.28473C>T

Transcript Alleles

HGVS Amino-acid change
NM_000077.4:c.340C>T , LRG_11t1:c.340C>T NP_000068.1:p.Pro114Ser
NM_001195132.1:c.340C>T VV NP_001182061.1:p.Pro114Ser
NM_058195.3:c.383C>T , LRG_11t2:c.383C>T NP_478102.2:p.Ala128Val
NM_058197.4:n.614C>T VV NP_478104.2:p.=
XM_005251343.1:c.187C>T XP_005251400.1:p.Pro63Ser
XM_011517675.1:c.340C>T XP_011515977.1:p.Pro114Ser
XM_011517676.1:c.340C>T XP_011515978.1:p.Pro114Ser
XM_011517679.1:c.187C>T XP_011515981.1:p.Pro63Ser
XR_929159.1:n.741C>T
XR_929161.1:n.530C>T
XR_929162.1:n.530C>T
XR_929163.1:n.479C>T
XR_929164.1:n.262C>T
NM_001363763.1:c.187C>T VV NP_001350692.1:p.Pro63Ser
XM_011517675.2:c.340C>T XP_011515977.1:p.Pro114Ser
XM_011517676.2:c.340C>T XP_011515978.1:p.Pro114Ser
XR_929159.2:n.670C>T
ENST00000304494.9:c.340C>T ENSP00000307101.5:p.Pro114Ser
ENST00000361570.4:c.382C>T ENSP00000355153.4:p.Pro128Ser
ENST00000380150.2:n.314C>T
ENST00000380151.3:n.614C>T ENSP00000369496.3:p.=
ENST00000404796.2:c.348-58414G>A ENSP00000385916.2:p.=
ENST00000479692.2:c.187C>T ENSP00000466887.1:p.Pro63Ser
ENST00000494262.5:c.187C>T ENSP00000464952.1:p.Pro63Ser
ENST00000497750.1:c.187C>T ENSP00000468510.1:p.Pro63Ser
ENST00000498124.1:c.340C>T ENSP00000418915.1:p.Pro114Ser
ENST00000498628.6:c.187C>T ENSP00000467857.1:p.Pro63Ser
ENST00000530628.2:c.383C>T ENSP00000432664.2:p.Ala128Val
ENST00000578845.2:c.187C>T ENSP00000467390.1:p.Pro63Ser
ENST00000579122.1:c.340C>T ENSP00000464202.1:p.Pro114Ser
ENST00000579755.1:c.383C>T ENSP00000462950.1:p.Ala128Val