Canonical Allele Identifier: CA367015229

Gene: TWIST1

Linked Data

• dbSNP Id: rs1310135591
• gnomAD v4: 7-19116792-T-A
• MyVariant Identifiers: chr7:g.19156415T>A (hg19) ; chr7:g.19116792T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116792T>A , CM000669.2:g.19116792T>A	GRCh38
NC_000007.13:g.19156415T>A , CM000669.1:g.19156415T>A	GRCh37
NC_000007.12:g.19122940T>A	NCBI36
NG_008114.1:g.5881A>T
NG_008114.2:g.5881A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.530A>T MANE Select	ENSP00000242261.5:p.Tyr177Phe
ENST00000242261.5:c.530A>T	ENSP00000242261.5:p.Tyr177Phe
ENST00000354571.5:c.327A>T
ENST00000443687.5:c.133A>T
NM_000474.3:c.530A>T	NP_000465.1:p.Tyr177Phe
XM_011515496.1:c.530A>T	XP_011513798.1:p.Tyr177Phe
NR_149001.1:n.881A>T
NM_000474.4:c.530A>T MANE Select	NP_000465.1:p.Tyr177Phe
NR_149001.2:n.845A>T