Canonical Allele Identifier: CA515377063

Gene: TUBGCP6

Linked Data

• MyVariant Identifiers: chr22:g.50662944C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224515C>G , CM000684.2:g.50224515C>G	GRCh38
NC_000022.10:g.50662944C>G , CM000684.1:g.50662944C>G	GRCh37
NC_000022.9:g.49005071C>G	NCBI36
NG_032160.1:g.25457G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.2061G>C MANE Select	ENSP00000248846.5:p.Leu687=
ENST00000248846.9:c.2061G>C	ENSP00000248846.5:p.Leu687=
ENST00000439308.6:c.2061G>C	ENSP00000397387.2:p.Leu687=
ENST00000473946.1:n.370G>C
ENST00000489511.5:n.78G>C
ENST00000491449.5:n.368G>C
ENST00000498611.5:n.2594G>C
NM_020461.3:c.2061G>C	NP_065194.2:p.Leu687=
XR_938347.1:n.2626G>C
XR_938348.1:n.2626G>C
XR_001755343.2:n.2630G>C
XR_001755344.2:n.2630G>C
XR_002958720.1:n.2630G>C
XR_938347.2:n.2630G>C
NM_020461.4:c.2061G>C MANE Select	NP_065194.3:p.Leu687=