Canonical Allele Identifier: CA367015896
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117102-G-T
COSMIC: COSM5688147
MyVariant Identifiers: chr7:g.19156725G>T (hg19) chr7:g.19117102G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117102G>T , CM000669.2:g.19117102G>T GRCh38
NC_000007.13:g.19156725G>T , CM000669.1:g.19156725G>T GRCh37
NC_000007.12:g.19123250G>T NCBI36
NG_008114.1:g.5571C>A
NG_008114.2:g.5571C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.220C>A MANE Select ENSP00000242261.5:p.Arg74Ser
ENST00000242261.5:c.220C>A ENSP00000242261.5:p.Arg74Ser
ENST00000354571.5:c.17C>A
NM_000474.3:c.220C>A NP_000465.1:p.Arg74Ser
XM_011515496.1:c.220C>A XP_011513798.1:p.Arg74Ser
NR_149001.1:n.571C>A
NM_000474.4:c.220C>A MANE Select NP_000465.1:p.Arg74Ser
NR_149001.2:n.535C>A
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