Canonical Allele Identifier: CA4174491

Gene: TWIST1

Linked Data

• dbSNP Id: rs574367856
• ExAC: 7:19156555 C / T
• gnomAD v2: 7-19156555-C-T
• gnomAD v3: 7-19116932-C-T
• gnomAD v4: 7-19116932-C-T
• MyVariant Identifiers: chr7:g.19156555C>T (hg19) ; chr7:g.19116932C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116932C>T , CM000669.2:g.19116932C>T	GRCh38
NC_000007.13:g.19156555C>T , CM000669.1:g.19156555C>T	GRCh37
NC_000007.12:g.19123080C>T	NCBI36
NG_008114.1:g.5741G>A
NG_008114.2:g.5741G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000242261.6:c.390G>A MANE Select	ENSP00000242261.5:p.Ala130=
ENST00000242261.5:c.390G>A	ENSP00000242261.5:p.Ala130=
ENST00000354571.5:c.187G>A
NM_000474.3:c.390G>A	NP_000465.1:p.Ala130=
XM_011515496.1:c.390G>A	XP_011513798.1:p.Ala130=
NR_149001.1:n.741G>A
NM_000474.4:c.390G>A MANE Select	NP_000465.1:p.Ala130=
NR_149001.2:n.705G>A