Canonical Allele Identifier: CA2678466325
Gene: CDKN1A HGNC NCBI

Linked Data

gnomAD v4: 6-36680942-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.36680942G>T , CM000668.2:g.36680942G>T GRCh38
NC_000006.11:g.36648719G>T , CM000668.1:g.36648719G>T GRCh37
NC_000006.10:g.36756697G>T NCBI36
NG_009364.1:g.7261G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000244741.10:c.-6+2144G>T MANE Select ENSP00000244741.6:n.-6+2144G>T
ENST00000244741.9:c.-6+2144G>T ENSP00000244741.5:n.-6+2144G>T
ENST00000373711.3:c.-96-1698G>T ENSP00000362815.1:n.-96-1698G>T
ENST00000405375.5:c.-6+2003G>T ENSP00000384849.1:n.-6+2003G>T
ENST00000448526.6:c.-6+3009G>T ENSP00000409259.3:n.-6+3009G>T
ENST00000459970.1:n.189+3009G>T
ENST00000478800.1:n.214+2003G>T
ENST00000615513.4:c.-5-3155G>T ENSP00000482768.1:n.-5-3155G>T
NM_000389.4:c.-6+2144G>T NP_000380.1:n.-6+2144G>T
NM_001220777.1:c.-5-3155G>T NP_001207706.1:n.-5-3155G>T
NM_001220778.1:c.-6+2003G>T NP_001207707.1:n.-6+2003G>T
NM_001291549.1:c.97+3009G>T NP_001278478.1:n.97+3009G>T
NM_078467.2:c.-6+3009G>T NP_510867.1:n.-6+3009G>T
XM_011515041.1:c.*88G>T XP_011513343.1:n.*88G>T
NM_000389.5:c.-6+2144G>T MANE Select NP_000380.1:n.-6+2144G>T
NM_001220777.2:c.-5-3155G>T NP_001207706.1:n.-5-3155G>T
NM_001220778.2:c.-6+2003G>T NP_001207707.1:n.-6+2003G>T
NM_001291549.3:c.97+3009G>T NP_001278478.1:n.97+3009G>T
NM_001374509.1:c.97+3009G>T NP_001361438.1:n.97+3009G>T
NM_001374510.1:c.35-3155G>T NP_001361439.1:n.35-3155G>T
NM_001374511.1:c.-6+2144G>T NP_001361440.1:n.-6+2144G>T
NM_001374512.1:c.-6+2144G>T NP_001361441.1:n.-6+2144G>T
NM_001374513.1:c.-6+2037G>T NP_001361442.1:n.-6+2037G>T
NM_078467.3:c.-6+3009G>T NP_510867.1:n.-6+3009G>T