Canonical Allele Identifier: CA2774611264

Gene: TWIST1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116450C>T , CM000669.2:g.19116450C>T	GRCh38
NC_000007.13:g.19156073C>T , CM000669.1:g.19156073C>T	GRCh37
NC_000007.12:g.19122598C>T	NCBI36
NG_008114.1:g.6223G>A
NG_008114.2:g.6223G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.*42+221G>A MANE Select	ENSP00000242261.5:n.*42+221G>A
ENST00000242261.5:c.*42+221G>A	ENSP00000242261.5:n.*42+221G>A
ENST00000354571.5:c.448+221G>A
ENST00000443687.5:c.254+221G>A
NM_000474.3:c.*42+221G>A	NP_000465.1:n.*42+221G>A
XM_011515496.1:c.*42+221G>A	XP_011513798.1:n.*42+221G>A
NR_149001.1:n.1002+221G>A
NM_000474.4:c.*42+221G>A MANE Select	NP_000465.1:n.*42+221G>A
NR_149001.2:n.966+221G>A