Canonical Allele Identifier: CA367015201

Gene: TWIST1

Linked Data

• COSMIC: COSM5445597
• MyVariant Identifiers: chr7:g.19156401G>A (hg19) ; chr7:g.19116778G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116778G>A , CM000669.2:g.19116778G>A	GRCh38
NC_000007.13:g.19156401G>A , CM000669.1:g.19156401G>A	GRCh37
NC_000007.12:g.19122926G>A	NCBI36
NG_008114.1:g.5895C>T
NG_008114.2:g.5895C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000242261.6:c.544C>T MANE Select	ENSP00000242261.5:p.Arg182Trp
ENST00000242261.5:c.544C>T	ENSP00000242261.5:p.Arg182Trp
ENST00000354571.5:c.341C>T
ENST00000443687.5:c.147C>T
NM_000474.3:c.544C>T	NP_000465.1:p.Arg182Trp
XM_011515496.1:c.544C>T	XP_011513798.1:p.Arg182Trp
NR_149001.1:n.895C>T
NM_000474.4:c.544C>T MANE Select	NP_000465.1:p.Arg182Trp
NR_149001.2:n.859C>T