Canonical Allele Identifier: CA1692251561

Gene: TWIST1

Linked Data

• dbSNP Id: rs1788598797
• gnomAD v4: 7-19117387-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117387C>A , CM000669.2:g.19117387C>A	GRCh38
NC_000007.13:g.19157010C>A , CM000669.1:g.19157010C>A	GRCh37
NC_000007.12:g.19123535C>A	NCBI36
NG_008114.1:g.5286G>T
NG_008114.2:g.5286G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.-66G>T MANE Select	ENSP00000242261.5:n.-66G>T
ENST00000242261.5:c.-66G>T	ENSP00000242261.5:n.-66G>T
NM_000474.3:c.-66G>T	NP_000465.1:n.-66G>T
XM_011515496.1:c.-66G>T	XP_011513798.1:n.-66G>T
NR_149001.1:n.286G>T
NM_000474.4:c.-66G>T MANE Select	NP_000465.1:n.-66G>T
NR_149001.2:n.250G>T