Canonical Allele Identifier: CA279600

Gene: ALK

Linked Data

• ClinVar Variation Id: 217858
• ClinVar RCV Id: RCV000201889 ; RCV000421376
• dbSNP Id: rs863225285
• COSMIC: COSM28058
• MyVariant Identifiers: chr2:g.29432655T>G (hg19) ; chr2:g.29209789T>G (hg38)
• PubMed: PMID:18923523 ; PMID:21838707 ; PMID:22072639

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29209789T>G , CM000664.2:g.29209789T>G	GRCh38
NC_000002.11:g.29432655T>G , CM000664.1:g.29432655T>G	GRCh37
NC_000002.10:g.29286159T>G	NCBI36
NG_009445.1:g.716778A>C , LRG_488:g.716778A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3833A>C MANE Select	ENSP00000373700.3:p.Tyr1278Ser
ENST00000431873.6:c.1060A>C
ENST00000638605.1:n.710A>C
ENST00000642122.1:c.629A>C	ENSP00000493203.1:p.Tyr210Ser
ENST00000389048.7:c.3833A>C	ENSP00000373700.3:p.Tyr1278Ser
ENST00000431873.5:c.713A>C	ENSP00000414027.2:p.Tyr238Ser
ENST00000618119.4:c.2702A>C	ENSP00000482733.1:p.Tyr901Ser
NM_004304.4:c.3833A>C	NP_004295.2:p.Tyr1278Ser
NM_001353765.1:c.629A>C	NP_001340694.1:p.Tyr210Ser
XM_024452778.1:c.986A>C	XP_024308546.1:p.Tyr329Ser
XM_024452779.1:c.629A>C	XP_024308547.1:p.Tyr210Ser
NM_004304.5:c.3833A>C MANE Select	NP_004295.2:p.Tyr1278Ser
NM_001353765.2:c.629A>C	NP_001340694.1:p.Tyr210Ser