Canonical Allele Identifier: CA367015629
Gene: TWIST1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116973C>G , CM000669.2:g.19116973C>G GRCh38
NC_000007.13:g.19156596C>G , CM000669.1:g.19156596C>G GRCh37
NC_000007.12:g.19123121C>G NCBI36
NG_008114.1:g.5700G>C
NG_008114.2:g.5700G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.349G>C MANE Select ENSP00000242261.5:p.Glu117Gln
ENST00000242261.5:c.349G>C ENSP00000242261.5:p.Glu117Gln
ENST00000354571.5:c.146G>C
NM_000474.3:c.349G>C NP_000465.1:p.Glu117Gln
XM_011515496.1:c.349G>C XP_011513798.1:p.Glu117Gln
NR_149001.1:n.700G>C
NM_000474.4:c.349G>C MANE Select NP_000465.1:p.Glu117Gln
NR_149001.2:n.664G>C