Canonical Allele Identifier: CA367015434

Gene: TWIST1

Linked Data

• MyVariant Identifiers: chr7:g.19156506G>A (hg19) ; chr7:g.19116883G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116883G>A , CM000669.2:g.19116883G>A	GRCh38
NC_000007.13:g.19156506G>A , CM000669.1:g.19156506G>A	GRCh37
NC_000007.12:g.19123031G>A	NCBI36
NG_008114.1:g.5790C>T
NG_008114.2:g.5790C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.439C>T MANE Select	ENSP00000242261.5:p.Gln147Ter
ENST00000242261.5:c.439C>T	ENSP00000242261.5:p.Gln147Ter
ENST00000354571.5:c.236C>T
ENST00000443687.5:c.42C>T
NM_000474.3:c.439C>T	NP_000465.1:p.Gln147Ter
XM_011515496.1:c.439C>T	XP_011513798.1:p.Gln147Ter
NR_149001.1:n.790C>T
NM_000474.4:c.439C>T MANE Select	NP_000465.1:p.Gln147Ter
NR_149001.2:n.754C>T