Canonical Allele Identifier: CA367016178
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117239-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117239T>C , CM000669.2:g.19117239T>C GRCh38
NC_000007.13:g.19156862T>C , CM000669.1:g.19156862T>C GRCh37
NC_000007.12:g.19123387T>C NCBI36
NG_008114.1:g.5434A>G
NG_008114.2:g.5434A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.83A>G MANE Select ENSP00000242261.5:p.Gln28Arg
ENST00000242261.5:c.83A>G ENSP00000242261.5:p.Gln28Arg
NM_000474.3:c.83A>G NP_000465.1:p.Gln28Arg
XM_011515496.1:c.83A>G XP_011513798.1:p.Gln28Arg
NR_149001.1:n.434A>G
NM_000474.4:c.83A>G MANE Select NP_000465.1:p.Gln28Arg
NR_149001.2:n.398A>G