Canonical Allele Identifier: CA1692250343
Gene: TWIST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116833G= , CM000669.2:g.19116833G= GRCh38
NC_000007.13:g.19156456G= , CM000669.1:g.19156456G= GRCh37
NC_000007.12:g.19122981G= NCBI36
NG_008114.1:g.5840C=
NG_008114.2:g.5840C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.489C= MANE Select ENSP00000242261.5:p.Leu163=
ENST00000242261.5:c.489C= ENSP00000242261.5:p.Leu163=
ENST00000354571.5:c.286C=
ENST00000443687.5:c.92C=
NM_000474.3:c.489C= NP_000465.1:p.Leu163=
XM_011515496.1:c.489C= XP_011513798.1:p.Leu163=
NR_149001.1:n.840C=
NM_000474.4:c.489C= MANE Select NP_000465.1:p.Leu163=
NR_149001.2:n.804C=