Canonical Allele Identifier: CA367015930
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117117-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117117G>C , CM000669.2:g.19117117G>C GRCh38
NC_000007.13:g.19156740G>C , CM000669.1:g.19156740G>C GRCh37
NC_000007.12:g.19123265G>C NCBI36
NG_008114.1:g.5556C>G
NG_008114.2:g.5556C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.205C>G MANE Select ENSP00000242261.5:p.Pro69Ala
ENST00000242261.5:c.205C>G ENSP00000242261.5:p.Pro69Ala
ENST00000354571.5:c.2C>G
NM_000474.3:c.205C>G NP_000465.1:p.Pro69Ala
XM_011515496.1:c.205C>G XP_011513798.1:p.Pro69Ala
NR_149001.1:n.556C>G
NM_000474.4:c.205C>G MANE Select NP_000465.1:p.Pro69Ala
NR_149001.2:n.520C>G