Canonical Allele Identifier: CA1839162512
Community Standard Title: NM_000077.5(CDKN2A):c.179C= (p.Ala60=)
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971180G= , CM000671.2:g.21971180G= GRCh38
NC_000009.11:g.21971179G= , CM000671.1:g.21971179G= GRCh37
NC_000009.10:g.21961179G= NCBI36
NG_007485.1:g.28312C= , LRG_11:g.28312C=

Transcript Alleles

HGVS Amino-acid Change
NM_000077.5:c.179C= MANE Select NP_000068.1:p.Ala60=
ENST00000304494.10:c.179C= MANE Select ENSP00000307101.5:p.Ala60=
NM_058195.4:c.222C= MANE Plus Clinical NP_478102.2:p.Gly74=
ENST00000579755.2:c.222C= MANE Plus Clinical ENSP00000462950.1:p.Gly74=
NM_000077.4:c.179C= , LRG_11t1:c.179C= NP_000068.1:p.Ala60=
NM_001195132.1:c.179C= NP_001182061.1:p.Ala60=
NM_001195132.2:c.179C= NP_001182061.1:p.Ala60=
NM_001363763.1:c.26C= NP_001350692.1:p.Ala9=
NM_001363763.2:c.26C= NP_001350692.1:p.Ala9=
NM_058195.3:c.222C= , LRG_11t2:c.222C= NP_478102.2:p.Gly74=
NM_058197.4:c.453C= NP_478104.2:n.453C=
NM_058197.5:c.*102C= NP_478104.2:n.*102C=
ENST00000304494.9:c.179C= ENSP00000307101.5:p.Ala60=
ENST00000361570.4:c.222C= ENSP00000355153.4:p.Gly74=
ENST00000380150.2:n.153C=
ENST00000380151.3:c.453C= ENSP00000369496.3:n.453C=
ENST00000404796.2:c.348-58253G= ENSP00000385916.2:n.348-58253G=
ENST00000404796.3:c.348-58253G= ENSP00000385916.2:n.348-58253G=
ENST00000479692.2:c.26C= ENSP00000466887.1:p.Ala9=
ENST00000494262.5:c.26C= ENSP00000464952.1:p.Ala9=
ENST00000497750.1:c.26C= ENSP00000468510.1:p.Ala9=
ENST00000498124.1:c.179C= ENSP00000418915.1:p.Ala60=
ENST00000498628.6:c.26C= ENSP00000467857.1:p.Ala9=
ENST00000530628.2:c.222C= ENSP00000432664.2:p.Gly74=
ENST00000578845.2:c.26C= ENSP00000467390.1:p.Ala9=
ENST00000579122.1:c.179C= ENSP00000464202.1:p.Ala60=
ENST00000579755.1:c.222C= ENSP00000462950.1:p.Gly74=
XM_005251343.1:c.26C= XP_005251400.1:p.Ala9=
XM_011517675.1:c.179C= XP_011515977.1:p.Ala60=
XM_011517675.2:c.179C= XP_011515977.1:p.Ala60=
XM_011517676.1:c.179C= XP_011515978.1:p.Ala60=
XM_011517676.2:c.179C= XP_011515978.1:p.Ala60=
XM_011517679.1:c.26C= XP_011515981.1:p.Ala9=
XR_929159.1:n.580C=
XR_929159.2:n.509C=
XR_929161.1:n.369C=
XR_929162.1:n.369C=
XR_929163.1:n.318C=
XR_929164.1:n.101C=