Canonical Allele Identifier: CA367015342

Gene: TWIST1

Linked Data

• dbSNP Id: rs1372603694
• gnomAD v2: 7-19156464-G-C
• gnomAD v3: 7-19116841-G-C
• gnomAD v4: 7-19116841-G-C
• MyVariant Identifiers: chr7:g.19156464G>C (hg19) ; chr7:g.19116841G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116841G>C , CM000669.2:g.19116841G>C	GRCh38
NC_000007.13:g.19156464G>C , CM000669.1:g.19156464G>C	GRCh37
NC_000007.12:g.19122989G>C	NCBI36
NG_008114.1:g.5832C>G
NG_008114.2:g.5832C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000242261.6:c.481C>G MANE Select	ENSP00000242261.5:p.Gln161Glu
ENST00000242261.5:c.481C>G	ENSP00000242261.5:p.Gln161Glu
ENST00000354571.5:c.278C>G
ENST00000443687.5:c.84C>G
NM_000474.3:c.481C>G	NP_000465.1:p.Gln161Glu
XM_011515496.1:c.481C>G	XP_011513798.1:p.Gln161Glu
NR_149001.1:n.832C>G
NM_000474.4:c.481C>G MANE Select	NP_000465.1:p.Gln161Glu
NR_149001.2:n.796C>G