Canonical Allele Identifier: CA367015868
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117090-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117090A>G , CM000669.2:g.19117090A>G GRCh38
NC_000007.13:g.19156713A>G , CM000669.1:g.19156713A>G GRCh37
NC_000007.12:g.19123238A>G NCBI36
NG_008114.1:g.5583T>C
NG_008114.2:g.5583T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.232T>C MANE Select ENSP00000242261.5:p.Ser78Pro
ENST00000242261.5:c.232T>C ENSP00000242261.5:p.Ser78Pro
ENST00000354571.5:c.29T>C
NM_000474.3:c.232T>C NP_000465.1:p.Ser78Pro
XM_011515496.1:c.232T>C XP_011513798.1:p.Ser78Pro
NR_149001.1:n.583T>C
NM_000474.4:c.232T>C MANE Select NP_000465.1:p.Ser78Pro
NR_149001.2:n.547T>C