Canonical Allele Identifier: CA10307880

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 1511313
• ClinVar RCV Id: RCV002016629
• dbSNP Id: rs568995761
• ExAC: 22:50659162 C / T
• gnomAD v2: 22-50659162-C-T
• gnomAD v3: 22-50220733-C-T
• gnomAD v4: 22-50220733-C-T
• MyVariant Identifiers: chr22:g.50659162C>T (hg19) ; chr22:g.50220733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220733C>T , CM000684.2:g.50220733C>T	GRCh38
NC_000022.10:g.50659162C>T , CM000684.1:g.50659162C>T	GRCh37
NC_000022.9:g.49001289C>T	NCBI36
NG_032160.1:g.29239G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3626G>A MANE Select	ENSP00000248846.5:p.Arg1209Gln
ENST00000248846.9:c.3626G>A	ENSP00000248846.5:p.Arg1209Gln
ENST00000439308.6:c.3626G>A	ENSP00000397387.2:p.Arg1209Gln
ENST00000491449.5:n.1933G>A
ENST00000498611.5:n.3617+542G>A
NM_020461.3:c.3626G>A	NP_065194.2:p.Arg1209Gln
XR_938347.1:n.4191G>A
XR_938348.1:n.3050-718G>A
XR_001755343.2:n.4195G>A
XR_001755344.2:n.4195G>A
XR_002958720.1:n.3054-718G>A
XR_938347.2:n.4195G>A
NM_020461.4:c.3626G>A MANE Select	NP_065194.3:p.Arg1209Gln