Canonical Allele Identifier: CA454143437

Gene: TWIST1

Linked Data

• MyVariant Identifiers: chr7:g.19156441C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116818C>T , CM000669.2:g.19116818C>T	GRCh38
NC_000007.13:g.19156441C>T , CM000669.1:g.19156441C>T	GRCh37
NC_000007.12:g.19122966C>T	NCBI36
NG_008114.1:g.5855G>A
NG_008114.2:g.5855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.504G>A MANE Select	ENSP00000242261.5:p.Leu168=
ENST00000242261.5:c.504G>A	ENSP00000242261.5:p.Leu168=
ENST00000354571.5:c.301G>A
ENST00000443687.5:c.107G>A
NM_000474.3:c.504G>A	NP_000465.1:p.Leu168=
XM_011515496.1:c.504G>A	XP_011513798.1:p.Leu168=
NR_149001.1:n.855G>A
NM_000474.4:c.504G>A MANE Select	NP_000465.1:p.Leu168=
NR_149001.2:n.819G>A