Canonical Allele Identifier: CA515376105

Gene: TUBGCP6

Linked Data

• MyVariant Identifiers: chr22:g.50659578C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221149C>A , CM000684.2:g.50221149C>A	GRCh38
NC_000022.10:g.50659578C>A , CM000684.1:g.50659578C>A	GRCh37
NC_000022.9:g.49001705C>A	NCBI36
NG_032160.1:g.28823G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3210G>T MANE Select	ENSP00000248846.5:p.Val1070=
ENST00000248846.9:c.3210G>T	ENSP00000248846.5:p.Val1070=
ENST00000439308.6:c.3210G>T	ENSP00000397387.2:p.Val1070=
ENST00000491449.5:n.1517G>T
ENST00000498611.5:n.3617+126G>T
NM_020461.3:c.3210G>T	NP_065194.2:p.Val1070=
XR_938347.1:n.3775G>T
XR_938348.1:n.3049+879G>T
XR_001755343.2:n.3779G>T
XR_001755344.2:n.3779G>T
XR_002958720.1:n.3053+879G>T
XR_938347.2:n.3779G>T
NM_020461.4:c.3210G>T MANE Select	NP_065194.3:p.Val1070=