Canonical Allele Identifier: CA454143805

Gene: TWIST1

Linked Data

• dbSNP Id: rs1788587036
• gnomAD v3: 7-19117052-G-T
• gnomAD v4: 7-19117052-G-T
• MyVariant Identifiers: chr7:g.19156675G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117052G>T , CM000669.2:g.19117052G>T	GRCh38
NC_000007.13:g.19156675G>T , CM000669.1:g.19156675G>T	GRCh37
NC_000007.12:g.19123200G>T	NCBI36
NG_008114.1:g.5621C>A
NG_008114.2:g.5621C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.270C>A MANE Select	ENSP00000242261.5:p.Gly90=
ENST00000242261.5:c.270C>A	ENSP00000242261.5:p.Gly90=
ENST00000354571.5:c.67C>A
NM_000474.3:c.270C>A	NP_000465.1:p.Gly90=
XM_011515496.1:c.270C>A	XP_011513798.1:p.Gly90=
NR_149001.1:n.621C>A
NM_000474.4:c.270C>A MANE Select	NP_000465.1:p.Gly90=
NR_149001.2:n.585C>A