Canonical Allele Identifier: CA367015929
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1788589415
gnomAD v3: 7-19117117-G-A
gnomAD v4: 7-19117117-G-A
MyVariant Identifiers: chr7:g.19156740G>A (hg19) chr7:g.19117117G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117117G>A , CM000669.2:g.19117117G>A GRCh38
NC_000007.13:g.19156740G>A , CM000669.1:g.19156740G>A GRCh37
NC_000007.12:g.19123265G>A NCBI36
NG_008114.1:g.5556C>T
NG_008114.2:g.5556C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.205C>T MANE Select ENSP00000242261.5:p.Pro69Ser
ENST00000242261.5:c.205C>T ENSP00000242261.5:p.Pro69Ser
ENST00000354571.5:c.2C>T
NM_000474.3:c.205C>T NP_000465.1:p.Pro69Ser
XM_011515496.1:c.205C>T XP_011513798.1:p.Pro69Ser
NR_149001.1:n.556C>T
NM_000474.4:c.205C>T MANE Select NP_000465.1:p.Pro69Ser
NR_149001.2:n.520C>T
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