Canonical Allele Identifier: CA346463846
Community Standard Title: NM_004304.5(ALK):c.3414G>C (p.Met1138Ile)
Gene: ALK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29222553C>G , CM000664.2:g.29222553C>G GRCh38
NC_000002.11:g.29445419C>G , CM000664.1:g.29445419C>G GRCh37
NC_000002.10:g.29298923C>G NCBI36
NG_009445.1:g.704014G>C , LRG_488:g.704014G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004304.5:c.3414G>C MANE Select NP_004295.2:p.Met1138Ile
ENST00000389048.8:c.3414G>C MANE Select ENSP00000373700.3:p.Met1138Ile
NM_001353765.1:c.210G>C NP_001340694.1:p.Met70Ile
NM_001353765.2:c.210G>C NP_001340694.1:p.Met70Ile
NM_004304.4:c.3414G>C NP_004295.2:p.Met1138Ile
ENST00000389048.7:c.3414G>C ENSP00000373700.3:p.Met1138Ile
ENST00000431873.5:c.294G>C ENSP00000414027.2:p.Met98Ile
ENST00000431873.6:c.641G>C
ENST00000453137.1:c.108G>C ENSP00000387488.1:p.Met36Ile
ENST00000618119.4:c.2283G>C ENSP00000482733.1:p.Met761Ile
ENST00000638605.1:n.291G>C
ENST00000642122.1:c.210G>C ENSP00000493203.1:p.Met70Ile
XM_024452778.1:c.567G>C XP_024308546.1:p.Met189Ile
XM_024452779.1:c.210G>C XP_024308547.1:p.Met70Ile