Canonical Allele Identifier: CA454066764
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1306750843
gnomAD v2: 7-19156396-G-A
gnomAD v4: 7-19116773-G-A
MyVariant Identifiers: chr7:g.19156396G>A (hg19) chr7:g.19116773G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116773G>A , CM000669.2:g.19116773G>A GRCh38
NC_000007.13:g.19156396G>A , CM000669.1:g.19156396G>A GRCh37
NC_000007.12:g.19122921G>A NCBI36
NG_008114.1:g.5900C>T
NG_008114.2:g.5900C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.549C>T MANE Select ENSP00000242261.5:p.Leu183=
ENST00000242261.5:c.549C>T ENSP00000242261.5:p.Leu183=
ENST00000354571.5:c.346C>T
ENST00000443687.5:c.152C>T
NM_000474.3:c.549C>T NP_000465.1:p.Leu183=
XM_011515496.1:c.549C>T XP_011513798.1:p.Leu183=
NR_149001.1:n.900C>T
NM_000474.4:c.549C>T MANE Select NP_000465.1:p.Leu183=
NR_149001.2:n.864C>T
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