Canonical Allele Identifier: CA367015507

Gene: TWIST1

Linked Data

• ClinVar Variation Id: 2925392
• ClinVar RCV Id: RCV003781046
• MyVariant Identifiers: chr7:g.19156539G>C (hg19) ; chr7:g.19116916G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116916G>C , CM000669.2:g.19116916G>C	GRCh38
NC_000007.13:g.19156539G>C , CM000669.1:g.19156539G>C	GRCh37
NC_000007.12:g.19123064G>C	NCBI36
NG_008114.1:g.5757C>G
NG_008114.2:g.5757C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000242261.6:c.406C>G MANE Select	ENSP00000242261.5:p.Pro136Ala
ENST00000242261.5:c.406C>G	ENSP00000242261.5:p.Pro136Ala
ENST00000354571.5:c.203C>G
ENST00000443687.5:c.9C>G
NM_000474.3:c.406C>G	NP_000465.1:p.Pro136Ala
XM_011515496.1:c.406C>G	XP_011513798.1:p.Pro136Ala
NR_149001.1:n.757C>G
NM_000474.4:c.406C>G MANE Select	NP_000465.1:p.Pro136Ala
NR_149001.2:n.721C>G