Canonical Allele Identifier: CA367015823
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117068-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117068C>T , CM000669.2:g.19117068C>T GRCh38
NC_000007.13:g.19156691C>T , CM000669.1:g.19156691C>T GRCh37
NC_000007.12:g.19123216C>T NCBI36
NG_008114.1:g.5605G>A
NG_008114.2:g.5605G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.254G>A MANE Select ENSP00000242261.5:p.Gly85Asp
ENST00000242261.5:c.254G>A ENSP00000242261.5:p.Gly85Asp
ENST00000354571.5:c.51G>A
NM_000474.3:c.254G>A NP_000465.1:p.Gly85Asp
XM_011515496.1:c.254G>A XP_011513798.1:p.Gly85Asp
NR_149001.1:n.605G>A
NM_000474.4:c.254G>A MANE Select NP_000465.1:p.Gly85Asp
NR_149001.2:n.569G>A