Canonical Allele Identifier: CA454143949
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117121-G-A
MyVariant Identifiers: chr7:g.19156744G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117121G>A , CM000669.2:g.19117121G>A GRCh38
NC_000007.13:g.19156744G>A , CM000669.1:g.19156744G>A GRCh37
NC_000007.12:g.19123269G>A NCBI36
NG_008114.1:g.5552C>T
NG_008114.2:g.5552C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.201C>T MANE Select ENSP00000242261.5:p.Gly67=
ENST00000242261.5:c.201C>T ENSP00000242261.5:p.Gly67=
NM_000474.3:c.201C>T NP_000465.1:p.Gly67=
XM_011515496.1:c.201C>T XP_011513798.1:p.Gly67=
NR_149001.1:n.552C>T
NM_000474.4:c.201C>T MANE Select NP_000465.1:p.Gly67=
NR_149001.2:n.516C>T