Canonical Allele Identifier: CA346471043
Community Standard Title: NM_004304.5(ALK):c.3743+1G>C
Gene: ALK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29213983C>G , CM000664.2:g.29213983C>G GRCh38
NC_000002.11:g.29436849C>G , CM000664.1:g.29436849C>G GRCh37
NC_000002.10:g.29290353C>G NCBI36
NG_009445.1:g.712584G>C , LRG_488:g.712584G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004304.5:c.3743+1G>C MANE Select NP_004295.2:n.3743+1G>C
ENST00000389048.8:c.3743+1G>C MANE Select ENSP00000373700.3:n.3743+1G>C
NM_001353765.1:c.539+1G>C NP_001340694.1:n.539+1G>C
NM_001353765.2:c.539+1G>C NP_001340694.1:n.539+1G>C
NM_004304.4:c.3743+1G>C NP_004295.2:n.3743+1G>C
ENST00000389048.7:c.3743+1G>C ENSP00000373700.3:n.3743+1G>C
ENST00000431873.5:c.623+1G>C ENSP00000414027.2:n.623+1G>C
ENST00000431873.6:c.970+1G>C
ENST00000618119.4:c.2612+1G>C ENSP00000482733.1:n.2612+1G>C
ENST00000638605.1:n.620+1G>C
ENST00000642122.1:c.539+1G>C ENSP00000493203.1:n.539+1G>C
XM_024452778.1:c.896+1G>C XP_024308546.1:n.896+1G>C
XM_024452779.1:c.539+1G>C XP_024308547.1:n.539+1G>C