Canonical Allele Identifier: CA367015639
Gene: TWIST1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.19156602C>A (hg19) chr7:g.19116979C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116979C>A , CM000669.2:g.19116979C>A GRCh38
NC_000007.13:g.19156602C>A , CM000669.1:g.19156602C>A GRCh37
NC_000007.12:g.19123127C>A NCBI36
NG_008114.1:g.5694G>T
NG_008114.2:g.5694G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.343G>T MANE Select ENSP00000242261.5:p.Val115Leu
ENST00000242261.5:c.343G>T ENSP00000242261.5:p.Val115Leu
ENST00000354571.5:c.140G>T
NM_000474.3:c.343G>T NP_000465.1:p.Val115Leu
XM_011515496.1:c.343G>T XP_011513798.1:p.Val115Leu
NR_149001.1:n.694G>T
NM_000474.4:c.343G>T MANE Select NP_000465.1:p.Val115Leu
NR_149001.2:n.658G>T
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