Canonical Allele Identifier: CA347593
Community Standard Title: NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys)
Gene: EIF2B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123621850T>C , CM000674.2:g.123621850T>C GRCh38
NC_000012.11:g.124106397T>C , CM000674.1:g.124106397T>C GRCh37
NC_000012.10:g.122672350T>C NCBI36
NG_015862.1:g.16927A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001414.4:c.824A>G MANE Select NP_001405.1:p.Tyr275Cys
ENST00000424014.7:c.824A>G MANE Select ENSP00000416250.2:p.Tyr275Cys
NM_001414.3:c.824A>G NP_001405.1:p.Tyr275Cys
ENST00000424014.6:c.824A>G ENSP00000416250.2:p.Tyr275Cys
ENST00000539951.5:c.*100A>G ENSP00000438060.1:n.*100A>G
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