Canonical Allele Identifier: CA515375954

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 2653371
• ClinVar RCV Id: RCV003433334
• dbSNP Id: rs1314975767
• gnomAD v2: 22-50659101-T-C
• gnomAD v3: 22-50220672-T-C
• gnomAD v4: 22-50220672-T-C
• MyVariant Identifiers: chr22:g.50659101T>C (hg19) ; chr22:g.50220672T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220672T>C , CM000684.2:g.50220672T>C	GRCh38
NC_000022.10:g.50659101T>C , CM000684.1:g.50659101T>C	GRCh37
NC_000022.9:g.49001228T>C	NCBI36
NG_032160.1:g.29300A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3687A>G MANE Select	ENSP00000248846.5:p.Val1229=
ENST00000248846.9:c.3687A>G	ENSP00000248846.5:p.Val1229=
ENST00000439308.6:c.3687A>G	ENSP00000397387.2:p.Val1229=
ENST00000491449.5:n.1994A>G
ENST00000498611.5:n.3617+603A>G
NM_020461.3:c.3687A>G	NP_065194.2:p.Val1229=
XR_938347.1:n.4252A>G
XR_938348.1:n.3050-657A>G
XR_001755343.2:n.4256A>G
XR_001755344.2:n.4256A>G
XR_002958720.1:n.3054-657A>G
XR_938347.2:n.4256A>G
NM_020461.4:c.3687A>G MANE Select	NP_065194.3:p.Val1229=