Canonical Allele Identifier: CA15994086
Gene: MAPK1 HGNC NCBI
dbSNP:
9340
gnomAD v2:
22:22115353 G / A
gnomAD v3:
22:21761064 G / A
gnomAD v4:
chr22-21761064-G-A
Joint Max Group AF 0.41744511 (NFE)
Genomes Max Group AF 0.41744269 (NFE)
MyVariant.info:
GRCh38 chr22:g.21761064G>A
GRCh37 chr22:g.22115353G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.21761064G>A , CM000684.2:g.21761064G>A GRCh38
NC_000022.10:g.22115353G>A , CM000684.1:g.22115353G>A GRCh37
NC_000022.9:g.20445353G>A NCBI36
NG_023054.2:g.111617C>T , LRG_786:g.111617C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215832.11:c.*3186C>T MANE Select ENSP00000215832.7:n.*3186C>T
ENST00000215832.10:c.*3186C>T ENSP00000215832.6:n.*3186C>T
NM_002745.4:c.*3186C>T , LRG_786t1:c.*3186C>T NP_002736.3:n.*3186C>T
NM_002745.5:c.*3186C>T MANE Select NP_002736.3:n.*3186C>T
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