Canonical Allele Identifier: CA515376138

Gene: TUBGCP6

Linked Data

• MyVariant Identifiers: chr22:g.50659587C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221158C>G , CM000684.2:g.50221158C>G	GRCh38
NC_000022.10:g.50659587C>G , CM000684.1:g.50659587C>G	GRCh37
NC_000022.9:g.49001714C>G	NCBI36
NG_032160.1:g.28814G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3201G>C MANE Select	ENSP00000248846.5:p.Val1067=
ENST00000248846.9:c.3201G>C	ENSP00000248846.5:p.Val1067=
ENST00000439308.6:c.3201G>C	ENSP00000397387.2:p.Val1067=
ENST00000491449.5:n.1508G>C
ENST00000498611.5:n.3617+117G>C
NM_020461.3:c.3201G>C	NP_065194.2:p.Val1067=
XR_938347.1:n.3766G>C
XR_938348.1:n.3049+870G>C
XR_001755343.2:n.3770G>C
XR_001755344.2:n.3770G>C
XR_002958720.1:n.3053+870G>C
XR_938347.2:n.3770G>C
NM_020461.4:c.3201G>C MANE Select	NP_065194.3:p.Val1067=