Canonical Allele Identifier: CA367015621
Gene: TWIST1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116970G>A , CM000669.2:g.19116970G>A GRCh38
NC_000007.13:g.19156593G>A , CM000669.1:g.19156593G>A GRCh37
NC_000007.12:g.19123118G>A NCBI36
NG_008114.1:g.5703C>T
NG_008114.2:g.5703C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000242261.6:c.352C>T MANE Select ENSP00000242261.5:p.Arg118Cys
ENST00000242261.5:c.352C>T ENSP00000242261.5:p.Arg118Cys
ENST00000354571.5:c.149C>T
NM_000474.3:c.352C>T NP_000465.1:p.Arg118Cys
XM_011515496.1:c.352C>T XP_011513798.1:p.Arg118Cys
NR_149001.1:n.703C>T
NM_000474.4:c.352C>T MANE Select NP_000465.1:p.Arg118Cys
NR_149001.2:n.667C>T