Canonical Allele Identifier: CA367015417

Gene: TWIST1

Linked Data

• MyVariant Identifiers: chr7:g.19156499A>T (hg19) ; chr7:g.19116876A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116876A>T , CM000669.2:g.19116876A>T	GRCh38
NC_000007.13:g.19156499A>T , CM000669.1:g.19156499A>T	GRCh37
NC_000007.12:g.19123024A>T	NCBI36
NG_008114.1:g.5797T>A
NG_008114.2:g.5797T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.446T>A MANE Select	ENSP00000242261.5:p.Leu149His
ENST00000242261.5:c.446T>A	ENSP00000242261.5:p.Leu149His
ENST00000354571.5:c.243T>A
ENST00000443687.5:c.49T>A
NM_000474.3:c.446T>A	NP_000465.1:p.Leu149His
XM_011515496.1:c.446T>A	XP_011513798.1:p.Leu149His
NR_149001.1:n.797T>A
NM_000474.4:c.446T>A MANE Select	NP_000465.1:p.Leu149His
NR_149001.2:n.761T>A