Canonical Allele Identifier: CA155466571
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs201480496
gnomAD v2: 7-19156378-G-C
gnomAD v3: 7-19116755-G-C
gnomAD v4: 7-19116755-G-C
MyVariant Identifiers: chr7:g.19156378G>C (hg19) chr7:g.19116755G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116755G>C , CM000669.2:g.19116755G>C GRCh38
NC_000007.13:g.19156378G>C , CM000669.1:g.19156378G>C GRCh37
NC_000007.12:g.19122903G>C NCBI36
NG_008114.1:g.5918C>G
NG_008114.2:g.5918C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.567C>G MANE Select ENSP00000242261.5:p.Val189=
ENST00000242261.5:c.567C>G ENSP00000242261.5:p.Val189=
ENST00000354571.5:c.364C>G
ENST00000443687.5:c.170C>G
NM_000474.3:c.567C>G NP_000465.1:p.Val189=
XM_011515496.1:c.567C>G XP_011513798.1:p.Val189=
NR_149001.1:n.918C>G
NM_000474.4:c.567C>G MANE Select NP_000465.1:p.Val189=
NR_149001.2:n.882C>G
Search 100 bp 5'
Search 100 bp 3'