Canonical Allele Identifier: CA367015946
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117125-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117125G>T , CM000669.2:g.19117125G>T GRCh38
NC_000007.13:g.19156748G>T , CM000669.1:g.19156748G>T GRCh37
NC_000007.12:g.19123273G>T NCBI36
NG_008114.1:g.5548C>A
NG_008114.2:g.5548C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.197C>A MANE Select ENSP00000242261.5:p.Pro66Gln
ENST00000242261.5:c.197C>A ENSP00000242261.5:p.Pro66Gln
NM_000474.3:c.197C>A NP_000465.1:p.Pro66Gln
XM_011515496.1:c.197C>A XP_011513798.1:p.Pro66Gln
NR_149001.1:n.548C>A
NM_000474.4:c.197C>A MANE Select NP_000465.1:p.Pro66Gln
NR_149001.2:n.512C>A