Canonical Allele Identifier: CA367015572

Gene: TWIST1

Linked Data

• ClinVar Variation Id: 2922136
• ClinVar RCV Id: RCV003785350
• MyVariant Identifiers: chr7:g.19156570G>C (hg19) ; chr7:g.19116947G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116947G>C , CM000669.2:g.19116947G>C	GRCh38
NC_000007.13:g.19156570G>C , CM000669.1:g.19156570G>C	GRCh37
NC_000007.12:g.19123095G>C	NCBI36
NG_008114.1:g.5726C>G
NG_008114.2:g.5726C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000242261.6:c.375C>G MANE Select	ENSP00000242261.5:p.Asn125Lys
ENST00000242261.5:c.375C>G	ENSP00000242261.5:p.Asn125Lys
ENST00000354571.5:c.172C>G
NM_000474.3:c.375C>G	NP_000465.1:p.Asn125Lys
XM_011515496.1:c.375C>G	XP_011513798.1:p.Asn125Lys
NR_149001.1:n.726C>G
NM_000474.4:c.375C>G MANE Select	NP_000465.1:p.Asn125Lys
NR_149001.2:n.690C>G