Canonical Allele Identifier: CA346463076
Community Standard Title: NM_004304.5(ALK):c.4248G>C (p.Lys1416Asn)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29193839C>G , CM000664.2:g.29193839C>G GRCh38
NC_000002.11:g.29416705C>G , CM000664.1:g.29416705C>G GRCh37
NC_000002.10:g.29270209C>G NCBI36
NG_009445.1:g.732728G>C , LRG_488:g.732728G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004304.5:c.4248G>C (ALK) MANE Select NP_004295.2:p.Lys1416Asn
ENST00000389048.8:c.4248G>C (ALK) MANE Select ENSP00000373700.3:p.Lys1416Asn
NM_001353765.1:c.1044G>C (ALK) NP_001340694.1:p.Lys348Asn
NM_001353765.2:c.1044G>C (ALK) NP_001340694.1:p.Lys348Asn
NM_004304.4:c.4248G>C (ALK) NP_004295.2:p.Lys1416Asn
ENST00000389048.7:c.4248G>C (ALK) ENSP00000373700.3:p.Lys1416Asn
ENST00000431873.5:c.1128G>C (ALK) ENSP00000414027.2:p.Lys376Asn
ENST00000431873.6:c.1475G>C (ALK)
ENST00000618119.4:c.3117G>C (ALK) ENSP00000482733.1:p.Lys1039Asn
ENST00000638605.1:n.1125G>C (ALK)
ENST00000642122.1:c.1044G>C (ALK) ENSP00000493203.1:p.Lys348Asn
ENST00000689605.1:c.1923-3089C>G (CLIP4) ENSP00000508948.1:n.1923-3089C>G
XM_024452778.1:c.1401G>C (ALK) XP_024308546.1:p.Lys467Asn
XM_024452779.1:c.1044G>C (ALK) XP_024308547.1:p.Lys348Asn