Canonical Allele Identifier: CA367015269

Gene: TWIST1

Linked Data

• MyVariant Identifiers: chr7:g.19156431T>A (hg19) ; chr7:g.19116808T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116808T>A , CM000669.2:g.19116808T>A	GRCh38
NC_000007.13:g.19156431T>A , CM000669.1:g.19156431T>A	GRCh37
NC_000007.12:g.19122956T>A	NCBI36
NG_008114.1:g.5865A>T
NG_008114.2:g.5865A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.514A>T MANE Select	ENSP00000242261.5:p.Met172Leu
ENST00000242261.5:c.514A>T	ENSP00000242261.5:p.Met172Leu
ENST00000354571.5:c.311A>T
ENST00000443687.5:c.117A>T
NM_000474.3:c.514A>T	NP_000465.1:p.Met172Leu
XM_011515496.1:c.514A>T	XP_011513798.1:p.Met172Leu
NR_149001.1:n.865A>T
NM_000474.4:c.514A>T MANE Select	NP_000465.1:p.Met172Leu
NR_149001.2:n.829A>T