Canonical Allele Identifier: CA454066750
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19116740-C-G
MyVariant Identifiers: chr7:g.19156363C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116740C>G , CM000669.2:g.19116740C>G GRCh38
NC_000007.13:g.19156363C>G , CM000669.1:g.19156363C>G GRCh37
NC_000007.12:g.19122888C>G NCBI36
NG_008114.1:g.5933G>C
NG_008114.2:g.5933G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.582G>C MANE Select ENSP00000242261.5:p.Gly194=
ENST00000242261.5:c.582G>C ENSP00000242261.5:p.Gly194=
ENST00000354571.5:c.379G>C
ENST00000443687.5:c.185G>C
NM_000474.3:c.582G>C NP_000465.1:p.Gly194=
XM_011515496.1:c.582G>C XP_011513798.1:p.Gly194=
NR_149001.1:n.933G>C
NM_000474.4:c.582G>C MANE Select NP_000465.1:p.Gly194=
NR_149001.2:n.897G>C
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