Canonical Allele Identifier: CA367015545
Gene: TWIST1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116934C>T , CM000669.2:g.19116934C>T GRCh38
NC_000007.13:g.19156557C>T , CM000669.1:g.19156557C>T GRCh37
NC_000007.12:g.19123082C>T NCBI36
NG_008114.1:g.5739G>A
NG_008114.2:g.5739G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.388G>A MANE Select ENSP00000242261.5:p.Ala130Thr
ENST00000242261.5:c.388G>A ENSP00000242261.5:p.Ala130Thr
ENST00000354571.5:c.185G>A
NM_000474.3:c.388G>A NP_000465.1:p.Ala130Thr
XM_011515496.1:c.388G>A XP_011513798.1:p.Ala130Thr
NR_149001.1:n.739G>A
NM_000474.4:c.388G>A MANE Select NP_000465.1:p.Ala130Thr
NR_149001.2:n.703G>A