Canonical Allele Identifier: CA367579684
Community Standard Title: NM_005228.5(EGFR):c.1472T>A (p.Ile491Lys)
Gene: EGFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55160312T>A , CM000669.2:g.55160312T>A GRCh38
NC_000007.13:g.55228005T>A , CM000669.1:g.55228005T>A GRCh37
NC_000007.12:g.55195499T>A NCBI36
NG_007726.3:g.146281T>A , LRG_304:g.146281T>A

Transcript Alleles

HGVS Amino-acid Change
NM_005228.5:c.1472T>A MANE Select NP_005219.2:p.Ile491Lys
ENST00000275493.7:c.1472T>A MANE Select ENSP00000275493.2:p.Ile491Lys
NM_001346897.1:c.1337T>A NP_001333826.1:p.Ile446Lys
NM_001346897.2:c.1337T>A NP_001333826.1:p.Ile446Lys
NM_001346898.1:c.1472T>A NP_001333827.1:p.Ile491Lys
NM_001346898.2:c.1472T>A NP_001333827.1:p.Ile491Lys
NM_001346899.1:c.1337T>A NP_001333828.1:p.Ile446Lys
NM_001346899.2:c.1337T>A NP_001333828.1:p.Ile446Lys
NM_001346900.1:c.1313T>A NP_001333829.1:p.Ile438Lys
NM_001346900.2:c.1313T>A NP_001333829.1:p.Ile438Lys
NM_001346941.1:c.671T>A NP_001333870.1:p.Ile224Lys
NM_001346941.2:c.671T>A NP_001333870.1:p.Ile224Lys
NM_005228.3:c.1472T>A , LRG_304t1:c.1472T>A NP_005219.2:p.Ile491Lys
NM_005228.4:c.1472T>A NP_005219.2:p.Ile491Lys
NM_201282.1:c.1472T>A NP_958439.1:p.Ile491Lys
NM_201282.2:c.1472T>A NP_958439.1:p.Ile491Lys
NM_201284.1:c.1472T>A NP_958441.1:p.Ile491Lys
NM_201284.2:c.1472T>A NP_958441.1:p.Ile491Lys
ENST00000275493.6:c.1472T>A ENSP00000275493.2:p.Ile491Lys
ENST00000342916.7:c.1472T>A ENSP00000342376.3:p.Ile491Lys
ENST00000344576.6:c.1472T>A ENSP00000345973.2:p.Ile491Lys
ENST00000344576.7:c.1472T>A ENSP00000345973.2:p.Ile491Lys
ENST00000442591.5:c.1472T>A ENSP00000410031.1:p.Ile491Lys
ENST00000450046.2:c.1313T>A ENSP00000413354.2:p.Ile438Lys
ENST00000454757.6:c.1337T>A ENSP00000395243.3:p.Ile446Lys
ENST00000455089.5:c.1337T>A ENSP00000415559.1:p.Ile446Lys