Canonical Allele Identifier: CA254294
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7982
ClinVar RCV Id: RCV000008446
dbSNP Id: rs104894059
MyVariant Identifiers: chr7:g.19156479T>C (hg19) chr7:g.19116856T>C (hg38)
PubMed: PMID:11754069
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116856T>C , CM000669.2:g.19116856T>C GRCh38
NC_000007.13:g.19156479T>C , CM000669.1:g.19156479T>C GRCh37
NC_000007.12:g.19123004T>C NCBI36
NG_008114.1:g.5817A>G
NG_008114.2:g.5817A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000242261.6:c.466A>G MANE Select ENSP00000242261.5:p.Ile156Val
ENST00000242261.5:c.466A>G ENSP00000242261.5:p.Ile156Val
ENST00000354571.5:c.263A>G
ENST00000443687.5:c.69A>G
NM_000474.3:c.466A>G NP_000465.1:p.Ile156Val
XM_011515496.1:c.466A>G XP_011513798.1:p.Ile156Val
NR_149001.1:n.817A>G
NM_000474.4:c.466A>G MANE Select NP_000465.1:p.Ile156Val
NR_149001.2:n.781A>G
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