Canonical Allele Identifier: CA367016245
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117268-G-T
MyVariant Identifiers: chr7:g.19156891G>T (hg19) chr7:g.19117268G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117268G>T , CM000669.2:g.19117268G>T GRCh38
NC_000007.13:g.19156891G>T , CM000669.1:g.19156891G>T GRCh37
NC_000007.12:g.19123416G>T NCBI36
NG_008114.1:g.5405C>A
NG_008114.2:g.5405C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.54C>A MANE Select ENSP00000242261.5:p.Ser18Arg
ENST00000242261.5:c.54C>A ENSP00000242261.5:p.Ser18Arg
NM_000474.3:c.54C>A NP_000465.1:p.Ser18Arg
XM_011515496.1:c.54C>A XP_011513798.1:p.Ser18Arg
NR_149001.1:n.405C>A
NM_000474.4:c.54C>A MANE Select NP_000465.1:p.Ser18Arg
NR_149001.2:n.369C>A
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