Canonical Allele Identifier: CA367015665
Gene: TWIST1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.19156613A>G (hg19) chr7:g.19116990A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116990A>G , CM000669.2:g.19116990A>G GRCh38
NC_000007.13:g.19156613A>G , CM000669.1:g.19156613A>G GRCh37
NC_000007.12:g.19123138A>G NCBI36
NG_008114.1:g.5683T>C
NG_008114.2:g.5683T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.332T>C MANE Select ENSP00000242261.5:p.Val111Ala
ENST00000242261.5:c.332T>C ENSP00000242261.5:p.Val111Ala
ENST00000354571.5:c.129T>C
NM_000474.3:c.332T>C NP_000465.1:p.Val111Ala
XM_011515496.1:c.332T>C XP_011513798.1:p.Val111Ala
NR_149001.1:n.683T>C
NM_000474.4:c.332T>C MANE Select NP_000465.1:p.Val111Ala
NR_149001.2:n.647T>C
Search 100 bp 5'
Search 100 bp 3'