Canonical Allele Identifier: CA573191631

Gene: TWIST1

Linked Data

• dbSNP Id: rs1299715479
• gnomAD v2: 7-19156096-T-C
• gnomAD v3: 7-19116473-T-C
• gnomAD v4: 7-19116473-T-C
• MyVariant Identifiers: chr7:g.19156096T>C (hg19) ; chr7:g.19116473T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116473T>C , CM000669.2:g.19116473T>C	GRCh38
NC_000007.13:g.19156096T>C , CM000669.1:g.19156096T>C	GRCh37
NC_000007.12:g.19122621T>C	NCBI36
NG_008114.1:g.6200A>G
NG_008114.2:g.6200A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.*42+198A>G MANE Select	ENSP00000242261.5:n.*42+198A>G
ENST00000242261.5:c.*42+198A>G	ENSP00000242261.5:n.*42+198A>G
ENST00000354571.5:c.448+198A>G
ENST00000443687.5:c.254+198A>G
NM_000474.3:c.*42+198A>G	NP_000465.1:n.*42+198A>G
XM_011515496.1:c.*42+198A>G	XP_011513798.1:n.*42+198A>G
NR_149001.1:n.1002+198A>G
NM_000474.4:c.*42+198A>G MANE Select	NP_000465.1:n.*42+198A>G
NR_149001.2:n.966+198A>G