Canonical Allele Identifier: CA367016263
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117277-G-C
MyVariant Identifiers: chr7:g.19156900G>C (hg19) chr7:g.19117277G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117277G>C , CM000669.2:g.19117277G>C GRCh38
NC_000007.13:g.19156900G>C , CM000669.1:g.19156900G>C GRCh37
NC_000007.12:g.19123425G>C NCBI36
NG_008114.1:g.5396C>G
NG_008114.2:g.5396C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.45C>G MANE Select ENSP00000242261.5:p.Asp15Glu
ENST00000242261.5:c.45C>G ENSP00000242261.5:p.Asp15Glu
NM_000474.3:c.45C>G NP_000465.1:p.Asp15Glu
XM_011515496.1:c.45C>G XP_011513798.1:p.Asp15Glu
NR_149001.1:n.396C>G
NM_000474.4:c.45C>G MANE Select NP_000465.1:p.Asp15Glu
NR_149001.2:n.360C>G
Search 100 bp 5'
Search 100 bp 3'