Canonical Allele Identifier: CA367015186
Gene: TWIST1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116771C>A , CM000669.2:g.19116771C>A GRCh38
NC_000007.13:g.19156394C>A , CM000669.1:g.19156394C>A GRCh37
NC_000007.12:g.19122919C>A NCBI36
NG_008114.1:g.5902G>T
NG_008114.2:g.5902G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.551G>T MANE Select ENSP00000242261.5:p.Ser184Ile
ENST00000242261.5:c.551G>T ENSP00000242261.5:p.Ser184Ile
ENST00000354571.5:c.348G>T
ENST00000443687.5:c.154G>T
NM_000474.3:c.551G>T NP_000465.1:p.Ser184Ile
XM_011515496.1:c.551G>T XP_011513798.1:p.Ser184Ile
NR_149001.1:n.902G>T
NM_000474.4:c.551G>T MANE Select NP_000465.1:p.Ser184Ile
NR_149001.2:n.866G>T