Canonical Allele Identifier: CA367015680
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2627611
ClinVar RCV Id: RCV003388901
MyVariant Identifiers: chr7:g.19156620G>C (hg19) chr7:g.19116997G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116997G>C , CM000669.2:g.19116997G>C GRCh38
NC_000007.13:g.19156620G>C , CM000669.1:g.19156620G>C GRCh37
NC_000007.12:g.19123145G>C NCBI36
NG_008114.1:g.5676C>G
NG_008114.2:g.5676C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.325C>G MANE Select ENSP00000242261.5:p.Gln109Glu
ENST00000242261.5:c.325C>G ENSP00000242261.5:p.Gln109Glu
ENST00000354571.5:c.122C>G
NM_000474.3:c.325C>G NP_000465.1:p.Gln109Glu
XM_011515496.1:c.325C>G XP_011513798.1:p.Gln109Glu
NR_149001.1:n.676C>G
NM_000474.4:c.325C>G MANE Select NP_000465.1:p.Gln109Glu
NR_149001.2:n.640C>G
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