Canonical Allele Identifier: CA156617

Gene: ALK

Linked Data

• ClinVar Variation Id: 133467
• ClinVar RCV Id: RCV000119971 ; RCV000475908 ; RCV002257413 ; RCV002266923 ; RCV003952583
• dbSNP Id: rs140733978
• ExAC: 2:29448419 G / A
• gnomAD v2: 2-29448419-G-A
• gnomAD v3: 2-29225553-G-A
• gnomAD v4: 2-29225553-G-A
• MyVariant Identifiers: chr2:g.29448419G>A (hg19) ; chr2:g.29225553G>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29225553G>A , CM000664.2:g.29225553G>A	GRCh38
NC_000002.11:g.29448419G>A , CM000664.1:g.29448419G>A	GRCh37
NC_000002.10:g.29301923G>A	NCBI36
NG_009445.1:g.701014C>T , LRG_488:g.701014C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3080C>T MANE Select	ENSP00000373700.3:p.Pro1027Leu
ENST00000431873.6:c.246C>T
ENST00000389048.7:c.3080C>T	ENSP00000373700.3:p.Pro1027Leu
ENST00000618119.4:c.1949C>T	ENSP00000482733.1:p.Pro650Leu
NM_004304.4:c.3080C>T	NP_004295.2:p.Pro1027Leu
XM_024452778.1:c.233C>T	XP_024308546.1:p.Pro78Leu
XR_001738688.2:n.3936C>T
NM_004304.5:c.3080C>T MANE Select	NP_004295.2:p.Pro1027Leu