Canonical Allele Identifier: CA367016193
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs889282966
gnomAD v4: 7-19117246-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117246G>A , CM000669.2:g.19117246G>A GRCh38
NC_000007.13:g.19156869G>A , CM000669.1:g.19156869G>A GRCh37
NC_000007.12:g.19123394G>A NCBI36
NG_008114.1:g.5427C>T
NG_008114.2:g.5427C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.76C>T MANE Select ENSP00000242261.5:p.Arg26Trp
ENST00000242261.5:c.76C>T ENSP00000242261.5:p.Arg26Trp
NM_000474.3:c.76C>T NP_000465.1:p.Arg26Trp
XM_011515496.1:c.76C>T XP_011513798.1:p.Arg26Trp
NR_149001.1:n.427C>T
NM_000474.4:c.76C>T MANE Select NP_000465.1:p.Arg26Trp
NR_149001.2:n.391C>T