Canonical Allele Identifier: CA454143883
Gene: TWIST1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.19156711A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117088A>C , CM000669.2:g.19117088A>C GRCh38
NC_000007.13:g.19156711A>C , CM000669.1:g.19156711A>C GRCh37
NC_000007.12:g.19123236A>C NCBI36
NG_008114.1:g.5585T>G
NG_008114.2:g.5585T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.234T>G MANE Select ENSP00000242261.5:p.Ser78=
ENST00000242261.5:c.234T>G ENSP00000242261.5:p.Ser78=
ENST00000354571.5:c.31T>G
NM_000474.3:c.234T>G NP_000465.1:p.Ser78=
XM_011515496.1:c.234T>G XP_011513798.1:p.Ser78=
NR_149001.1:n.585T>G
NM_000474.4:c.234T>G MANE Select NP_000465.1:p.Ser78=
NR_149001.2:n.549T>G