Canonical Allele Identifier: CA128180061
Gene: EGR1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.138465844C>T
GRCh37 chr5:g.137801533C>T
Revel Score:
ENST00000535792 0.109
ENST00000411801 0.109
ENST00000239938 (MANE Select) 0.109
dbSNP:
13181973
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138465844C>T , CM000667.2:g.138465844C>T GRCh38
NC_000005.9:g.137801533C>T , CM000667.1:g.137801533C>T GRCh37
NC_000005.8:g.137829432C>T NCBI36
NG_021374.1:g.5353C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000239938.5:c.83C>T MANE Select ENSP00000239938.4:p.Thr28Ile
ENST00000239938.4:c.83C>T ENSP00000239938.4:p.Thr28Ile
NM_001964.2:c.83C>T NP_001955.1:p.Thr28Ile
NM_001964.3:c.83C>T MANE Select NP_001955.1:p.Thr28Ile
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