Canonical Allele Identifier: CA10308387

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 1663683
• ClinVar RCV Id: RCV002188634
• dbSNP Id: rs753236977
• ExAC: 22:50662947 T / C
• gnomAD v2: 22-50662947-T-C
• gnomAD v4: 22-50224518-T-C
• COSMIC: COSM1566391
• MyVariant Identifiers: chr22:g.50662947T>C (hg19) ; chr22:g.50224518T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224518T>C , CM000684.2:g.50224518T>C	GRCh38
NC_000022.10:g.50662947T>C , CM000684.1:g.50662947T>C	GRCh37
NC_000022.9:g.49005074T>C	NCBI36
NG_032160.1:g.25454A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248846.10:c.2058A>G MANE Select	ENSP00000248846.5:p.Ala686=
ENST00000248846.9:c.2058A>G	ENSP00000248846.5:p.Ala686=
ENST00000439308.6:c.2058A>G	ENSP00000397387.2:p.Ala686=
ENST00000473946.1:n.367A>G
ENST00000489511.5:n.75A>G
ENST00000491449.5:n.365A>G
ENST00000498611.5:n.2591A>G
NM_020461.3:c.2058A>G	NP_065194.2:p.Ala686=
XR_938347.1:n.2623A>G
XR_938348.1:n.2623A>G
XR_001755343.2:n.2627A>G
XR_001755344.2:n.2627A>G
XR_002958720.1:n.2627A>G
XR_938347.2:n.2627A>G
NM_020461.4:c.2058A>G MANE Select	NP_065194.3:p.Ala686=