Canonical Allele Identifier: CA346462883
Community Standard Title: NM_004304.5(ALK):c.3512T>G (p.Ile1171Ser)
Gene: ALK HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_004304.5:c.3512T>G MANE Select NP_004295.2:p.Ile1171Ser
ENST00000389048.8:c.3512T>G MANE Select ENSP00000373700.3:p.Ile1171Ser
NM_001353765.1:c.308T>G NP_001340694.1:p.Ile103Ser
NM_001353765.2:c.308T>G NP_001340694.1:p.Ile103Ser
NM_004304.4:c.3512T>G NP_004295.2:p.Ile1171Ser
ENST00000389048.7:c.3512T>G ENSP00000373700.3:p.Ile1171Ser
ENST00000431873.5:c.392T>G ENSP00000414027.2:p.Ile131Ser
ENST00000431873.6:c.739T>G
ENST00000453137.1:c.206T>G ENSP00000387488.1:p.Ile69Ser
ENST00000618119.4:c.2381T>G ENSP00000482733.1:p.Ile794Ser
ENST00000638605.1:n.389T>G
ENST00000642122.1:c.308T>G ENSP00000493203.1:p.Ile103Ser
XM_024452778.1:c.665T>G XP_024308546.1:p.Ile222Ser
XM_024452779.1:c.308T>G XP_024308547.1:p.Ile103Ser
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