Canonical Allele Identifier: CA367015894
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117102-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117102G>A , CM000669.2:g.19117102G>A GRCh38
NC_000007.13:g.19156725G>A , CM000669.1:g.19156725G>A GRCh37
NC_000007.12:g.19123250G>A NCBI36
NG_008114.1:g.5571C>T
NG_008114.2:g.5571C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.220C>T MANE Select ENSP00000242261.5:p.Arg74Cys
ENST00000242261.5:c.220C>T ENSP00000242261.5:p.Arg74Cys
ENST00000354571.5:c.17C>T
NM_000474.3:c.220C>T NP_000465.1:p.Arg74Cys
XM_011515496.1:c.220C>T XP_011513798.1:p.Arg74Cys
NR_149001.1:n.571C>T
NM_000474.4:c.220C>T MANE Select NP_000465.1:p.Arg74Cys
NR_149001.2:n.535C>T