Canonical Allele Identifier: CA412183011

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 2622597
• ClinVar RCV Id: RCV003381736
• dbSNP Id: rs1335246388
• gnomAD v2: 22-50659414-G-A
• gnomAD v3: 22-50220985-G-A
• gnomAD v4: 22-50220985-G-A
• MyVariant Identifiers: chr22:g.50659414G>A (hg19) ; chr22:g.50220985G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220985G>A , CM000684.2:g.50220985G>A	GRCh38
NC_000022.10:g.50659414G>A , CM000684.1:g.50659414G>A	GRCh37
NC_000022.9:g.49001541G>A	NCBI36
NG_032160.1:g.28987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3374C>T MANE Select	ENSP00000248846.5:p.Ala1125Val
ENST00000248846.9:c.3374C>T	ENSP00000248846.5:p.Ala1125Val
ENST00000439308.6:c.3374C>T	ENSP00000397387.2:p.Ala1125Val
ENST00000491449.5:n.1681C>T
ENST00000498611.5:n.3617+290C>T
NM_020461.3:c.3374C>T	NP_065194.2:p.Ala1125Val
XR_938347.1:n.3939C>T
XR_938348.1:n.3050-970C>T
XR_001755343.2:n.3943C>T
XR_001755344.2:n.3943C>T
XR_002958720.1:n.3054-970C>T
XR_938347.2:n.3943C>T
NM_020461.4:c.3374C>T MANE Select	NP_065194.3:p.Ala1125Val