Canonical Allele Identifier: CA454143544

Gene: TWIST1

Linked Data

• MyVariant Identifiers: chr7:g.19156516C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116893C>G , CM000669.2:g.19116893C>G	GRCh38
NC_000007.13:g.19156516C>G , CM000669.1:g.19156516C>G	GRCh37
NC_000007.12:g.19123041C>G	NCBI36
NG_008114.1:g.5780G>C
NG_008114.2:g.5780G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.429G>C MANE Select	ENSP00000242261.5:p.Leu143=
ENST00000242261.5:c.429G>C	ENSP00000242261.5:p.Leu143=
ENST00000354571.5:c.226G>C
ENST00000443687.5:c.32G>C
NM_000474.3:c.429G>C	NP_000465.1:p.Leu143=
XM_011515496.1:c.429G>C	XP_011513798.1:p.Leu143=
NR_149001.1:n.780G>C
NM_000474.4:c.429G>C MANE Select	NP_000465.1:p.Leu143=
NR_149001.2:n.744G>C