Canonical Allele Identifier: CA454143842

Gene: TWIST1

Linked Data

• dbSNP Id: rs1230428800
• gnomAD v4: 7-19117006-G-A
• MyVariant Identifiers: chr7:g.19156629G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117006G>A , CM000669.2:g.19117006G>A	GRCh38
NC_000007.13:g.19156629G>A , CM000669.1:g.19156629G>A	GRCh37
NC_000007.12:g.19123154G>A	NCBI36
NG_008114.1:g.5667C>T
NG_008114.2:g.5667C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.316C>T MANE Select	ENSP00000242261.5:p.Leu106=
ENST00000242261.5:c.316C>T	ENSP00000242261.5:p.Leu106=
ENST00000354571.5:c.113C>T
NM_000474.3:c.316C>T	NP_000465.1:p.Leu106=
XM_011515496.1:c.316C>T	XP_011513798.1:p.Leu106=
NR_149001.1:n.667C>T
NM_000474.4:c.316C>T MANE Select	NP_000465.1:p.Leu106=
NR_149001.2:n.631C>T