Canonical Allele Identifier: CA367015299

Gene: TWIST1

Linked Data

• MyVariant Identifiers: chr7:g.19156445T>G (hg19) ; chr7:g.19116822T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116822T>G , CM000669.2:g.19116822T>G	GRCh38
NC_000007.13:g.19156445T>G , CM000669.1:g.19156445T>G	GRCh37
NC_000007.12:g.19122970T>G	NCBI36
NG_008114.1:g.5851A>C
NG_008114.2:g.5851A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.500A>C MANE Select	ENSP00000242261.5:p.Glu167Ala
ENST00000242261.5:c.500A>C	ENSP00000242261.5:p.Glu167Ala
ENST00000354571.5:c.297A>C
ENST00000443687.5:c.103A>C
NM_000474.3:c.500A>C	NP_000465.1:p.Glu167Ala
XM_011515496.1:c.500A>C	XP_011513798.1:p.Glu167Ala
NR_149001.1:n.851A>C
NM_000474.4:c.500A>C MANE Select	NP_000465.1:p.Glu167Ala
NR_149001.2:n.815A>C