Canonical Allele Identifier: CA14920925
Gene: MAPK1 HGNC NCBI
COSMIC:
COSN6692198
dbSNP:
2283792
gnomAD v2:
22:22131125 T / G
gnomAD v3:
22:21776836 T / G
gnomAD v4:
chr22-21776836-T-G
Joint Max Group AF 0.60181234 (AMR)
Genomes Max Group AF 0.60181234 (AMR)
MyVariant.info:
GRCh38 chr22:g.21776836T>G
GRCh37 chr22:g.22131125T>G
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.21776836T>G , CM000684.2:g.21776836T>G GRCh38
NC_000022.10:g.22131125T>G , CM000684.1:g.22131125T>G GRCh37
NC_000022.9:g.20461125T>G NCBI36
NG_023054.2:g.95845A>C , LRG_786:g.95845A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215832.11:c.857-3854A>C MANE Select ENSP00000215832.7:n.857-3854A>C
ENST00000215832.10:c.857-3854A>C ENSP00000215832.6:n.857-3854A>C
ENST00000398822.7:c.857-3854A>C ENSP00000381803.3:n.857-3854A>C
ENST00000544786.1:c.725-3854A>C ENSP00000440842.1:n.725-3854A>C
NM_002745.4:c.857-3854A>C , LRG_786t1:c.857-3854A>C NP_002736.3:n.857-3854A>C
NM_138957.3:c.857-3854A>C , LRG_786t2:c.857-3854A>C NP_620407.1:n.857-3854A>C
NM_002745.5:c.857-3854A>C MANE Select NP_002736.3:n.857-3854A>C
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