Canonical Allele Identifier: CA367015235
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2430914
ClinVar RCV Id: RCV003129447

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116794G>C , CM000669.2:g.19116794G>C GRCh38
NC_000007.13:g.19156417G>C , CM000669.1:g.19156417G>C GRCh37
NC_000007.12:g.19122942G>C NCBI36
NG_008114.1:g.5879C>G
NG_008114.2:g.5879C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.528C>G MANE Select ENSP00000242261.5:p.Ser176Arg
ENST00000242261.5:c.528C>G ENSP00000242261.5:p.Ser176Arg
ENST00000354571.5:c.325C>G
ENST00000443687.5:c.131C>G
NM_000474.3:c.528C>G NP_000465.1:p.Ser176Arg
XM_011515496.1:c.528C>G XP_011513798.1:p.Ser176Arg
NR_149001.1:n.879C>G
NM_000474.4:c.528C>G MANE Select NP_000465.1:p.Ser176Arg
NR_149001.2:n.843C>G