Canonical Allele Identifier: CA412180655

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 1498448
• ClinVar RCV Id: RCV002035551
• dbSNP Id: rs763977994
• MyVariant Identifiers: chr22:g.50659081C>A (hg19) ; chr22:g.50220652C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220652C>A , CM000684.2:g.50220652C>A	GRCh38
NC_000022.10:g.50659081C>A , CM000684.1:g.50659081C>A	GRCh37
NC_000022.9:g.49001208C>A	NCBI36
NG_032160.1:g.29320G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3707G>T MANE Select	ENSP00000248846.5:p.Arg1236Leu
ENST00000248846.9:c.3707G>T	ENSP00000248846.5:p.Arg1236Leu
ENST00000439308.6:c.3707G>T	ENSP00000397387.2:p.Arg1236Leu
ENST00000491449.5:n.2014G>T
ENST00000498611.5:n.3617+623G>T
NM_020461.3:c.3707G>T	NP_065194.2:p.Arg1236Leu
XR_938347.1:n.4272G>T
XR_938348.1:n.3050-637G>T
XR_001755343.2:n.4276G>T
XR_001755344.2:n.4276G>T
XR_002958720.1:n.3054-637G>T
XR_938347.2:n.4276G>T
NM_020461.4:c.3707G>T MANE Select	NP_065194.3:p.Arg1236Leu