Canonical Allele Identifier: CA367016154
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2095663
ClinVar RCV Id: RCV003012439

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117228C>G , CM000669.2:g.19117228C>G GRCh38
NC_000007.13:g.19156851C>G , CM000669.1:g.19156851C>G GRCh37
NC_000007.12:g.19123376C>G NCBI36
NG_008114.1:g.5445G>C
NG_008114.2:g.5445G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.94G>C MANE Select ENSP00000242261.5:p.Gly32Arg
ENST00000242261.5:c.94G>C ENSP00000242261.5:p.Gly32Arg
NM_000474.3:c.94G>C NP_000465.1:p.Gly32Arg
XM_011515496.1:c.94G>C XP_011513798.1:p.Gly32Arg
NR_149001.1:n.445G>C
NM_000474.4:c.94G>C MANE Select NP_000465.1:p.Gly32Arg
NR_149001.2:n.409G>C