Canonical Allele Identifier: CA367016273
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117281-T-A
MyVariant Identifiers: chr7:g.19156904T>A (hg19) chr7:g.19117281T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117281T>A , CM000669.2:g.19117281T>A GRCh38
NC_000007.13:g.19156904T>A , CM000669.1:g.19156904T>A GRCh37
NC_000007.12:g.19123429T>A NCBI36
NG_008114.1:g.5392A>T
NG_008114.2:g.5392A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.41A>T MANE Select ENSP00000242261.5:p.Asp14Val
ENST00000242261.5:c.41A>T ENSP00000242261.5:p.Asp14Val
NM_000474.3:c.41A>T NP_000465.1:p.Asp14Val
XM_011515496.1:c.41A>T XP_011513798.1:p.Asp14Val
NR_149001.1:n.392A>T
NM_000474.4:c.41A>T MANE Select NP_000465.1:p.Asp14Val
NR_149001.2:n.356A>T
Search 100 bp 5'
Search 100 bp 3'