Canonical Allele Identifier: CA1692249735

Gene: TWIST1

Linked Data

• dbSNP Id: rs1788566762

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116449A>C , CM000669.2:g.19116449A>C	GRCh38
NC_000007.13:g.19156072A>C , CM000669.1:g.19156072A>C	GRCh37
NC_000007.12:g.19122597A>C	NCBI36
NG_008114.1:g.6224T>G
NG_008114.2:g.6224T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.*42+222T>G MANE Select	ENSP00000242261.5:n.*42+222T>G
ENST00000242261.5:c.*42+222T>G	ENSP00000242261.5:n.*42+222T>G
ENST00000354571.5:c.448+222T>G
ENST00000443687.5:c.254+222T>G
NM_000474.3:c.*42+222T>G	NP_000465.1:n.*42+222T>G
XM_011515496.1:c.*42+222T>G	XP_011513798.1:n.*42+222T>G
NR_149001.1:n.1002+222T>G
NM_000474.4:c.*42+222T>G MANE Select	NP_000465.1:n.*42+222T>G
NR_149001.2:n.966+222T>G