Canonical Allele Identifier: CA16602371

Gene: ALK

Linked Data

• ClinVar Variation Id: 375888
• ClinVar RCV Id: RCV000428427
• dbSNP Id: rs1057519698
• COSMIC: COSM28498
• MyVariant Identifiers: chr2:g.29445213A>T (hg19) ; chr2:g.29222347A>T (hg38)
• CIViC: CA16602371
• PubMed: PMID:18724359 ; PMID:21838707 ; PMID:22072639

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222347A>T , CM000664.2:g.29222347A>T	GRCh38
NC_000002.11:g.29445213A>T , CM000664.1:g.29445213A>T	GRCh37
NC_000002.10:g.29298717A>T	NCBI36
NG_009445.1:g.704220T>A , LRG_488:g.704220T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3512T>A MANE Select	ENSP00000373700.3:p.Ile1171Asn
ENST00000431873.6:c.739T>A
ENST00000638605.1:n.389T>A
ENST00000642122.1:c.308T>A	ENSP00000493203.1:p.Ile103Asn
ENST00000389048.7:c.3512T>A	ENSP00000373700.3:p.Ile1171Asn
ENST00000431873.5:c.392T>A	ENSP00000414027.2:p.Ile131Asn
ENST00000453137.1:c.206T>A	ENSP00000387488.1:p.Ile69Asn
ENST00000618119.4:c.2381T>A	ENSP00000482733.1:p.Ile794Asn
NM_004304.4:c.3512T>A	NP_004295.2:p.Ile1171Asn
NM_001353765.1:c.308T>A	NP_001340694.1:p.Ile103Asn
XM_024452778.1:c.665T>A	XP_024308546.1:p.Ile222Asn
XM_024452779.1:c.308T>A	XP_024308547.1:p.Ile103Asn
NM_004304.5:c.3512T>A MANE Select	NP_004295.2:p.Ile1171Asn
NM_001353765.2:c.308T>A	NP_001340694.1:p.Ile103Asn