Canonical Allele Identifier: CA346463174

Gene: ALK

Linked Data

• ClinVar Variation Id: 941004
• ClinVar RCV Id: RCV001210706 ; RCV002451458
• dbSNP Id: rs1270501196
• gnomAD v2: 2-29445249-T-A
• gnomAD v3: 2-29222383-T-A
• gnomAD v4: 2-29222383-T-A
• MyVariant Identifiers: chr2:g.29445249T>A (hg19) ; chr2:g.29222383T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222383T>A , CM000664.2:g.29222383T>A	GRCh38
NC_000002.11:g.29445249T>A , CM000664.1:g.29445249T>A	GRCh37
NC_000002.10:g.29298753T>A	NCBI36
NG_009445.1:g.704184A>T , LRG_488:g.704184A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3476A>T MANE Select	ENSP00000373700.3:p.Gln1159Leu
ENST00000431873.6:c.703A>T
ENST00000638605.1:n.353A>T
ENST00000642122.1:c.272A>T	ENSP00000493203.1:p.Gln91Leu
ENST00000389048.7:c.3476A>T	ENSP00000373700.3:p.Gln1159Leu
ENST00000431873.5:c.356A>T	ENSP00000414027.2:p.Gln119Leu
ENST00000453137.1:c.170A>T	ENSP00000387488.1:p.Gln57Leu
ENST00000618119.4:c.2345A>T	ENSP00000482733.1:p.Gln782Leu
NM_004304.4:c.3476A>T	NP_004295.2:p.Gln1159Leu
NM_001353765.1:c.272A>T	NP_001340694.1:p.Gln91Leu
XM_024452778.1:c.629A>T	XP_024308546.1:p.Gln210Leu
XM_024452779.1:c.272A>T	XP_024308547.1:p.Gln91Leu
NM_004304.5:c.3476A>T MANE Select	NP_004295.2:p.Gln1159Leu
NM_001353765.2:c.272A>T	NP_001340694.1:p.Gln91Leu