Canonical Allele Identifier: CA367015640
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1487469592
gnomAD v2: 7-19156602-C-G
MyVariant Identifiers: chr7:g.19156602C>G (hg19) chr7:g.19116979C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116979C>G , CM000669.2:g.19116979C>G GRCh38
NC_000007.13:g.19156602C>G , CM000669.1:g.19156602C>G GRCh37
NC_000007.12:g.19123127C>G NCBI36
NG_008114.1:g.5694G>C
NG_008114.2:g.5694G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.343G>C MANE Select ENSP00000242261.5:p.Val115Leu
ENST00000242261.5:c.343G>C ENSP00000242261.5:p.Val115Leu
ENST00000354571.5:c.140G>C
NM_000474.3:c.343G>C NP_000465.1:p.Val115Leu
XM_011515496.1:c.343G>C XP_011513798.1:p.Val115Leu
NR_149001.1:n.694G>C
NM_000474.4:c.343G>C MANE Select NP_000465.1:p.Val115Leu
NR_149001.2:n.658G>C
Search 100 bp 5'
Search 100 bp 3'