Canonical Allele Identifier: CA367015542
Gene: TWIST1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.19156556G>T (hg19) chr7:g.19116933G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116933G>T , CM000669.2:g.19116933G>T GRCh38
NC_000007.13:g.19156556G>T , CM000669.1:g.19156556G>T GRCh37
NC_000007.12:g.19123081G>T NCBI36
NG_008114.1:g.5740C>A
NG_008114.2:g.5740C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.389C>A MANE Select ENSP00000242261.5:p.Ala130Glu
ENST00000242261.5:c.389C>A ENSP00000242261.5:p.Ala130Glu
ENST00000354571.5:c.186C>A
NM_000474.3:c.389C>A NP_000465.1:p.Ala130Glu
XM_011515496.1:c.389C>A XP_011513798.1:p.Ala130Glu
NR_149001.1:n.740C>A
NM_000474.4:c.389C>A MANE Select NP_000465.1:p.Ala130Glu
NR_149001.2:n.704C>A
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