Canonical Allele Identifier: CA367015228

Gene: TWIST1

Linked Data

• ClinVar Variation Id: 2438446
• ClinVar RCV Id: RCV003139198
• MyVariant Identifiers: chr7:g.19156414A>T (hg19) ; chr7:g.19116791A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116791A>T , CM000669.2:g.19116791A>T	GRCh38
NC_000007.13:g.19156414A>T , CM000669.1:g.19156414A>T	GRCh37
NC_000007.12:g.19122939A>T	NCBI36
NG_008114.1:g.5882T>A
NG_008114.2:g.5882T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.531T>A MANE Select	ENSP00000242261.5:p.Tyr177Ter
ENST00000242261.5:c.531T>A	ENSP00000242261.5:p.Tyr177Ter
ENST00000354571.5:c.328T>A
ENST00000443687.5:c.134T>A
NM_000474.3:c.531T>A	NP_000465.1:p.Tyr177Ter
XM_011515496.1:c.531T>A	XP_011513798.1:p.Tyr177Ter
NR_149001.1:n.882T>A
NM_000474.4:c.531T>A MANE Select	NP_000465.1:p.Tyr177Ter
NR_149001.2:n.846T>A