Canonical Allele Identifier: CA1099033014
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1788598555
gnomAD v3: 7-19117382-C-T
gnomAD v4: 7-19117382-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117382C>T , CM000669.2:g.19117382C>T GRCh38
NC_000007.13:g.19157005C>T , CM000669.1:g.19157005C>T GRCh37
NC_000007.12:g.19123530C>T NCBI36
NG_008114.1:g.5291G>A
NG_008114.2:g.5291G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-61G>A MANE Select ENSP00000242261.5:n.-61G>A
ENST00000242261.5:c.-61G>A ENSP00000242261.5:n.-61G>A
NM_000474.3:c.-61G>A NP_000465.1:n.-61G>A
XM_011515496.1:c.-61G>A XP_011513798.1:n.-61G>A
NR_149001.1:n.291G>A
NM_000474.4:c.-61G>A MANE Select NP_000465.1:n.-61G>A
NR_149001.2:n.255G>A
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