Canonical Allele Identifier: CA454143564

Gene: TWIST1

Linked Data

• MyVariant Identifiers: chr7:g.19156528G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116905G>T , CM000669.2:g.19116905G>T	GRCh38
NC_000007.13:g.19156528G>T , CM000669.1:g.19156528G>T	GRCh37
NC_000007.12:g.19123053G>T	NCBI36
NG_008114.1:g.5768C>A
NG_008114.2:g.5768C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.417C>A MANE Select	ENSP00000242261.5:p.Pro139=
ENST00000242261.5:c.417C>A	ENSP00000242261.5:p.Pro139=
ENST00000354571.5:c.214C>A
ENST00000443687.5:c.20C>A
NM_000474.3:c.417C>A	NP_000465.1:p.Pro139=
XM_011515496.1:c.417C>A	XP_011513798.1:p.Pro139=
NR_149001.1:n.768C>A
NM_000474.4:c.417C>A MANE Select	NP_000465.1:p.Pro139=
NR_149001.2:n.732C>A