Canonical Allele Identifier: CA367015893

Gene: TWIST1

Linked Data

• gnomAD v4: 7-19117101-C-A
• MyVariant Identifiers: chr7:g.19156724C>A (hg19) ; chr7:g.19117101C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117101C>A , CM000669.2:g.19117101C>A	GRCh38
NC_000007.13:g.19156724C>A , CM000669.1:g.19156724C>A	GRCh37
NC_000007.12:g.19123249C>A	NCBI36
NG_008114.1:g.5572G>T
NG_008114.2:g.5572G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.221G>T MANE Select	ENSP00000242261.5:p.Arg74Leu
ENST00000242261.5:c.221G>T	ENSP00000242261.5:p.Arg74Leu
ENST00000354571.5:c.18G>T
NM_000474.3:c.221G>T	NP_000465.1:p.Arg74Leu
XM_011515496.1:c.221G>T	XP_011513798.1:p.Arg74Leu
NR_149001.1:n.572G>T
NM_000474.4:c.221G>T MANE Select	NP_000465.1:p.Arg74Leu
NR_149001.2:n.536G>T