Canonical Allele Identifier: CA573191649
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1350133748
gnomAD v2: 7-19156150-G-C
gnomAD v3: 7-19116527-G-C
gnomAD v4: 7-19116527-G-C
MyVariant Identifiers: chr7:g.19156150G>C (hg19) chr7:g.19116527G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116527G>C , CM000669.2:g.19116527G>C GRCh38
NC_000007.13:g.19156150G>C , CM000669.1:g.19156150G>C GRCh37
NC_000007.12:g.19122675G>C NCBI36
NG_008114.1:g.6146C>G
NG_008114.2:g.6146C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.*42+144C>G MANE Select ENSP00000242261.5:n.*42+144C>G
ENST00000242261.5:c.*42+144C>G ENSP00000242261.5:n.*42+144C>G
ENST00000354571.5:c.448+144C>G
ENST00000443687.5:c.254+144C>G
NM_000474.3:c.*42+144C>G NP_000465.1:n.*42+144C>G
XM_011515496.1:c.*42+144C>G XP_011513798.1:n.*42+144C>G
NR_149001.1:n.1002+144C>G
NM_000474.4:c.*42+144C>G MANE Select NP_000465.1:n.*42+144C>G
NR_149001.2:n.966+144C>G
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