Canonical Allele Identifier: CA367015449
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 970861
ClinVar RCV Id: RCV001246515
dbSNP Id: rs1788580326
MyVariant Identifiers: chr7:g.19156512T>C (hg19) chr7:g.19116889T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116889T>C , CM000669.2:g.19116889T>C GRCh38
NC_000007.13:g.19156512T>C , CM000669.1:g.19156512T>C GRCh37
NC_000007.12:g.19123037T>C NCBI36
NG_008114.1:g.5784A>G
NG_008114.2:g.5784A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.433A>G MANE Select ENSP00000242261.5:p.Lys145Glu
ENST00000242261.5:c.433A>G ENSP00000242261.5:p.Lys145Glu
ENST00000354571.5:c.230A>G
ENST00000443687.5:c.36A>G
NM_000474.3:c.433A>G NP_000465.1:p.Lys145Glu
XM_011515496.1:c.433A>G XP_011513798.1:p.Lys145Glu
NR_149001.1:n.784A>G
NM_000474.4:c.433A>G MANE Select NP_000465.1:p.Lys145Glu
NR_149001.2:n.748A>G
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