Canonical Allele Identifier: CA367015870
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1788588675
gnomAD v4: 7-19117091-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117091C>A , CM000669.2:g.19117091C>A GRCh38
NC_000007.13:g.19156714C>A , CM000669.1:g.19156714C>A GRCh37
NC_000007.12:g.19123239C>A NCBI36
NG_008114.1:g.5582G>T
NG_008114.2:g.5582G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.231G>T MANE Select ENSP00000242261.5:p.Lys77Asn
ENST00000242261.5:c.231G>T ENSP00000242261.5:p.Lys77Asn
ENST00000354571.5:c.28G>T
NM_000474.3:c.231G>T NP_000465.1:p.Lys77Asn
XM_011515496.1:c.231G>T XP_011513798.1:p.Lys77Asn
NR_149001.1:n.582G>T
NM_000474.4:c.231G>T MANE Select NP_000465.1:p.Lys77Asn
NR_149001.2:n.546G>T