Canonical Allele Identifier: CA367015212

Gene: TWIST1

Linked Data

• gnomAD v3: 7-19116783-T-G
• gnomAD v4: 7-19116783-T-G
• MyVariant Identifiers: chr7:g.19156406T>G (hg19) ; chr7:g.19116783T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116783T>G , CM000669.2:g.19116783T>G	GRCh38
NC_000007.13:g.19156406T>G , CM000669.1:g.19156406T>G	GRCh37
NC_000007.12:g.19122931T>G	NCBI36
NG_008114.1:g.5890A>C
NG_008114.2:g.5890A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.539A>C MANE Select	ENSP00000242261.5:p.His180Pro
ENST00000242261.5:c.539A>C	ENSP00000242261.5:p.His180Pro
ENST00000354571.5:c.336A>C
ENST00000443687.5:c.142A>C
NM_000474.3:c.539A>C	NP_000465.1:p.His180Pro
XM_011515496.1:c.539A>C	XP_011513798.1:p.His180Pro
NR_149001.1:n.890A>C
NM_000474.4:c.539A>C MANE Select	NP_000465.1:p.His180Pro
NR_149001.2:n.854A>C