Canonical Allele Identifier: CA2681939171

Gene: TWIST1

Linked Data

• gnomAD v4: 7-19116594-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116594T>C , CM000669.2:g.19116594T>C	GRCh38
NC_000007.13:g.19156217T>C , CM000669.1:g.19156217T>C	GRCh37
NC_000007.12:g.19122742T>C	NCBI36
NG_008114.1:g.6079A>G
NG_008114.2:g.6079A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.*42+77A>G MANE Select	ENSP00000242261.5:n.*42+77A>G
ENST00000242261.5:c.*42+77A>G	ENSP00000242261.5:n.*42+77A>G
ENST00000354571.5:c.448+77A>G
ENST00000443687.5:c.254+77A>G
NM_000474.3:c.*42+77A>G	NP_000465.1:n.*42+77A>G
XM_011515496.1:c.*42+77A>G	XP_011513798.1:n.*42+77A>G
NR_149001.1:n.1002+77A>G
NM_000474.4:c.*42+77A>G MANE Select	NP_000465.1:n.*42+77A>G
NR_149001.2:n.966+77A>G