Canonical Allele Identifier: CA2552434664
Gene: TWIST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116516A>C , CM000669.2:g.19116516A>C GRCh38
NC_000007.13:g.19156139A>C , CM000669.1:g.19156139A>C GRCh37
NC_000007.12:g.19122664A>C NCBI36
NG_008114.1:g.6157T>G
NG_008114.2:g.6157T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.*42+155T>G MANE Select ENSP00000242261.5:n.*42+155T>G
ENST00000242261.5:c.*42+155T>G ENSP00000242261.5:n.*42+155T>G
ENST00000354571.5:c.448+155T>G
ENST00000443687.5:c.254+155T>G
NM_000474.3:c.*42+155T>G NP_000465.1:n.*42+155T>G
XM_011515496.1:c.*42+155T>G XP_011513798.1:n.*42+155T>G
NR_149001.1:n.1002+155T>G
NM_000474.4:c.*42+155T>G MANE Select NP_000465.1:n.*42+155T>G
NR_149001.2:n.966+155T>G