Canonical Allele Identifier: CA155466633
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs930856354
gnomAD v3: 7-19117225-T-G
gnomAD v4: 7-19117225-T-G
MyVariant Identifiers: chr7:g.19156848T>G (hg19) chr7:g.19117225T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117225T>G , CM000669.2:g.19117225T>G GRCh38
NC_000007.13:g.19156848T>G , CM000669.1:g.19156848T>G GRCh37
NC_000007.12:g.19123373T>G NCBI36
NG_008114.1:g.5448A>C
NG_008114.2:g.5448A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.97A>C MANE Select ENSP00000242261.5:p.Lys33Gln
ENST00000242261.5:c.97A>C ENSP00000242261.5:p.Lys33Gln
NM_000474.3:c.97A>C NP_000465.1:p.Lys33Gln
XM_011515496.1:c.97A>C XP_011513798.1:p.Lys33Gln
NR_149001.1:n.448A>C
NM_000474.4:c.97A>C MANE Select NP_000465.1:p.Lys33Gln
NR_149001.2:n.412A>C
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