Canonical Allele Identifier: CA1594031
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29223465T>G
GRCh37 chr2:g.29446331T>G
Revel Score:
ENST00000389048 (MANE Select) 0.632
gnomAD v2:
2:29446331 T / G
gnomAD v3:
2:29223465 T / G
gnomAD v4:
chr2-29223465-T-G
Joint Max Group AF 0.00026127 (AMR)
Genomes Max Group AF 0.00005284 (AMR)
Exomes Max Group AF 0.00029574 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29223465T>G , CM000664.2:g.29223465T>G GRCh38
NC_000002.11:g.29446331T>G , CM000664.1:g.29446331T>G GRCh37
NC_000002.10:g.29299835T>G NCBI36
NG_009445.1:g.703102A>C , LRG_488:g.703102A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.3236A>C MANE Select ENSP00000373700.3:p.Lys1079Thr
ENST00000431873.6:c.463A>C
ENST00000638605.1:n.113A>C
ENST00000642122.1:c.32A>C ENSP00000493203.1:p.Lys11Thr
ENST00000389048.7:c.3236A>C ENSP00000373700.3:p.Lys1079Thr
ENST00000431873.5:c.116A>C ENSP00000414027.2:p.Lys39Thr
ENST00000618119.4:c.2105A>C ENSP00000482733.1:p.Lys702Thr
NM_004304.4:c.3236A>C NP_004295.2:p.Lys1079Thr
NM_001353765.1:c.32A>C NP_001340694.1:p.Lys11Thr
XM_024452778.1:c.389A>C XP_024308546.1:p.Lys130Thr
XM_024452779.1:c.32A>C XP_024308547.1:p.Lys11Thr
XR_001738688.2:n.4092A>C
NM_004304.5:c.3236A>C MANE Select NP_004295.2:p.Lys1079Thr
NM_001353765.2:c.32A>C NP_001340694.1:p.Lys11Thr
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