Canonical Allele Identifier: CA155466583

Gene: TWIST1

Linked Data

• ClinVar Variation Id: 568616
• ClinVar RCV Id: RCV000689034
• dbSNP Id: rs867957820
• gnomAD v4: 7-19116835-G-A
• MyVariant Identifiers: chr7:g.19156458G>A (hg19) ; chr7:g.19116835G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116835G>A , CM000669.2:g.19116835G>A	GRCh38
NC_000007.13:g.19156458G>A , CM000669.1:g.19156458G>A	GRCh37
NC_000007.12:g.19122983G>A	NCBI36
NG_008114.1:g.5838C>T
NG_008114.2:g.5838C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000242261.6:c.487C>T MANE Select	ENSP00000242261.5:p.Leu163Phe
ENST00000242261.5:c.487C>T	ENSP00000242261.5:p.Leu163Phe
ENST00000354571.5:c.284C>T
ENST00000443687.5:c.90C>T
NM_000474.3:c.487C>T	NP_000465.1:p.Leu163Phe
XM_011515496.1:c.487C>T	XP_011513798.1:p.Leu163Phe
NR_149001.1:n.838C>T
NM_000474.4:c.487C>T MANE Select	NP_000465.1:p.Leu163Phe
NR_149001.2:n.802C>T