Canonical Allele Identifier: CA367015937
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117120-T-C
MyVariant Identifiers: chr7:g.19156743T>C (hg19) chr7:g.19117120T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117120T>C , CM000669.2:g.19117120T>C GRCh38
NC_000007.13:g.19156743T>C , CM000669.1:g.19156743T>C GRCh37
NC_000007.12:g.19123268T>C NCBI36
NG_008114.1:g.5553A>G
NG_008114.2:g.5553A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.202A>G MANE Select ENSP00000242261.5:p.Ser68Gly
ENST00000242261.5:c.202A>G ENSP00000242261.5:p.Ser68Gly
NM_000474.3:c.202A>G NP_000465.1:p.Ser68Gly
XM_011515496.1:c.202A>G XP_011513798.1:p.Ser68Gly
NR_149001.1:n.553A>G
NM_000474.4:c.202A>G MANE Select NP_000465.1:p.Ser68Gly
NR_149001.2:n.517A>G
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