Canonical Allele Identifier: CA4174479

Gene: TWIST1

Linked Data

• dbSNP Id: rs761081705
• ExAC: 7:19156486 G / C
• gnomAD v2: 7-19156486-G-C
• gnomAD v4: 7-19116863-G-C
• MyVariant Identifiers: chr7:g.19156486G>C (hg19) ; chr7:g.19116863G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116863G>C , CM000669.2:g.19116863G>C	GRCh38
NC_000007.13:g.19156486G>C , CM000669.1:g.19156486G>C	GRCh37
NC_000007.12:g.19123011G>C	NCBI36
NG_008114.1:g.5810C>G
NG_008114.2:g.5810C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000242261.6:c.459C>G MANE Select	ENSP00000242261.5:p.Ala153=
ENST00000242261.5:c.459C>G	ENSP00000242261.5:p.Ala153=
ENST00000354571.5:c.256C>G
ENST00000443687.5:c.62C>G
NM_000474.3:c.459C>G	NP_000465.1:p.Ala153=
XM_011515496.1:c.459C>G	XP_011513798.1:p.Ala153=
NR_149001.1:n.810C>G
NM_000474.4:c.459C>G MANE Select	NP_000465.1:p.Ala153=
NR_149001.2:n.774C>G