Canonical Allele Identifier: CA367015722

Gene: TWIST1

Linked Data

• dbSNP Id: rs375193589
• gnomAD v3: 7-19117018-A-G
• gnomAD v4: 7-19117018-A-G
• MyVariant Identifiers: chr7:g.19156641A>G (hg19) ; chr7:g.19117018A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117018A>G , CM000669.2:g.19117018A>G	GRCh38
NC_000007.13:g.19156641A>G , CM000669.1:g.19156641A>G	GRCh37
NC_000007.12:g.19123166A>G	NCBI36
NG_008114.1:g.5655T>C
NG_008114.2:g.5655T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000242261.6:c.304T>C MANE Select	ENSP00000242261.5:p.Ser102Pro
ENST00000242261.5:c.304T>C	ENSP00000242261.5:p.Ser102Pro
ENST00000354571.5:c.101T>C
NM_000474.3:c.304T>C	NP_000465.1:p.Ser102Pro
XM_011515496.1:c.304T>C	XP_011513798.1:p.Ser102Pro
NR_149001.1:n.655T>C
NM_000474.4:c.304T>C MANE Select	NP_000465.1:p.Ser102Pro
NR_149001.2:n.619T>C