Canonical Allele Identifier: CA10307903
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1054390
ClinVar RCV Id: RCV001362883
dbSNP Id: rs756429894
ExAC: 22:50659217 C / T
gnomAD v2: 22-50659217-C-T
gnomAD v3: 22-50220788-C-T
gnomAD v4: 22-50220788-C-T
COSMIC: COSM4054930
MyVariant Identifiers: chr22:g.50659217C>T (hg19) chr22:g.50220788C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220788C>T , CM000684.2:g.50220788C>T GRCh38
NC_000022.10:g.50659217C>T , CM000684.1:g.50659217C>T GRCh37
NC_000022.9:g.49001344C>T NCBI36
NG_032160.1:g.29184G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3571G>A MANE Select ENSP00000248846.5:p.Val1191Met
ENST00000248846.9:c.3571G>A ENSP00000248846.5:p.Val1191Met
ENST00000439308.6:c.3571G>A ENSP00000397387.2:p.Val1191Met
ENST00000491449.5:n.1878G>A
ENST00000498611.5:n.3617+487G>A
NM_020461.3:c.3571G>A NP_065194.2:p.Val1191Met
XR_938347.1:n.4136G>A
XR_938348.1:n.3050-773G>A
XR_001755343.2:n.4140G>A
XR_001755344.2:n.4140G>A
XR_002958720.1:n.3054-773G>A
XR_938347.2:n.4140G>A
NM_020461.4:c.3571G>A MANE Select NP_065194.3:p.Val1191Met
Search 100 bp 5'
Search 100 bp 3'