Canonical Allele Identifier: CA454143422
Gene: TWIST1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.19156423G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116800G>A , CM000669.2:g.19116800G>A GRCh38
NC_000007.13:g.19156423G>A , CM000669.1:g.19156423G>A GRCh37
NC_000007.12:g.19122948G>A NCBI36
NG_008114.1:g.5873C>T
NG_008114.2:g.5873C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.522C>T MANE Select ENSP00000242261.5:p.Ser174=
ENST00000242261.5:c.522C>T ENSP00000242261.5:p.Ser174=
ENST00000354571.5:c.319C>T
ENST00000443687.5:c.125C>T
NM_000474.3:c.522C>T NP_000465.1:p.Ser174=
XM_011515496.1:c.522C>T XP_011513798.1:p.Ser174=
NR_149001.1:n.873C>T
NM_000474.4:c.522C>T MANE Select NP_000465.1:p.Ser174=
NR_149001.2:n.837C>T