Canonical Allele Identifier: CA367015311

Gene: TWIST1

Linked Data

• gnomAD v4: 7-19116827-G-T
• COSMIC: COSM4738442
• MyVariant Identifiers: chr7:g.19156450G>T (hg19) ; chr7:g.19116827G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116827G>T , CM000669.2:g.19116827G>T	GRCh38
NC_000007.13:g.19156450G>T , CM000669.1:g.19156450G>T	GRCh37
NC_000007.12:g.19122975G>T	NCBI36
NG_008114.1:g.5846C>A
NG_008114.2:g.5846C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.495C>A MANE Select	ENSP00000242261.5:p.Ser165Arg
ENST00000242261.5:c.495C>A	ENSP00000242261.5:p.Ser165Arg
ENST00000354571.5:c.292C>A
ENST00000443687.5:c.98C>A
NM_000474.3:c.495C>A	NP_000465.1:p.Ser165Arg
XM_011515496.1:c.495C>A	XP_011513798.1:p.Ser165Arg
NR_149001.1:n.846C>A
NM_000474.4:c.495C>A MANE Select	NP_000465.1:p.Ser165Arg
NR_149001.2:n.810C>A