Canonical Allele Identifier: CA367015460
Gene: TWIST1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116894A>G , CM000669.2:g.19116894A>G GRCh38
NC_000007.13:g.19156517A>G , CM000669.1:g.19156517A>G GRCh37
NC_000007.12:g.19123042A>G NCBI36
NG_008114.1:g.5779T>C
NG_008114.2:g.5779T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.428T>C MANE Select ENSP00000242261.5:p.Leu143Pro
ENST00000242261.5:c.428T>C ENSP00000242261.5:p.Leu143Pro
ENST00000354571.5:c.225T>C
ENST00000443687.5:c.31T>C
NM_000474.3:c.428T>C NP_000465.1:p.Leu143Pro
XM_011515496.1:c.428T>C XP_011513798.1:p.Leu143Pro
NR_149001.1:n.779T>C
NM_000474.4:c.428T>C MANE Select NP_000465.1:p.Leu143Pro
NR_149001.2:n.743T>C