Canonical Allele Identifier: CA2681939128

Gene: TWIST1

Linked Data

• gnomAD v4: 7-19116564-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116564C>A , CM000669.2:g.19116564C>A	GRCh38
NC_000007.13:g.19156187C>A , CM000669.1:g.19156187C>A	GRCh37
NC_000007.12:g.19122712C>A	NCBI36
NG_008114.1:g.6109G>T
NG_008114.2:g.6109G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.*42+107G>T MANE Select	ENSP00000242261.5:n.*42+107G>T
ENST00000242261.5:c.*42+107G>T	ENSP00000242261.5:n.*42+107G>T
ENST00000354571.5:c.448+107G>T
ENST00000443687.5:c.254+107G>T
NM_000474.3:c.*42+107G>T	NP_000465.1:n.*42+107G>T
XM_011515496.1:c.*42+107G>T	XP_011513798.1:n.*42+107G>T
NR_149001.1:n.1002+107G>T
NM_000474.4:c.*42+107G>T MANE Select	NP_000465.1:n.*42+107G>T
NR_149001.2:n.966+107G>T