Canonical Allele Identifier: CA515376488

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 2005469
• ClinVar RCV Id: RCV002821050
• MyVariant Identifiers: chr22:g.50659248G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220819G>T , CM000684.2:g.50220819G>T	GRCh38
NC_000022.10:g.50659248G>T , CM000684.1:g.50659248G>T	GRCh37
NC_000022.9:g.49001375G>T	NCBI36
NG_032160.1:g.29153C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3540C>A MANE Select	ENSP00000248846.5:p.Pro1180=
ENST00000248846.9:c.3540C>A	ENSP00000248846.5:p.Pro1180=
ENST00000439308.6:c.3540C>A	ENSP00000397387.2:p.Pro1180=
ENST00000491449.5:n.1847C>A
ENST00000498611.5:n.3617+456C>A
NM_020461.3:c.3540C>A	NP_065194.2:p.Pro1180=
XR_938347.1:n.4105C>A
XR_938348.1:n.3050-804C>A
XR_001755343.2:n.4109C>A
XR_001755344.2:n.4109C>A
XR_002958720.1:n.3054-804C>A
XR_938347.2:n.4109C>A
NM_020461.4:c.3540C>A MANE Select	NP_065194.3:p.Pro1180=