Canonical Allele Identifier: CA412161845

Gene: TUBGCP6

Linked Data

• MyVariant Identifiers: chr22:g.50656347C>G (hg19) ; chr22:g.50217918C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50217918C>G , CM000684.2:g.50217918C>G	GRCh38
NC_000022.10:g.50656347C>G , CM000684.1:g.50656347C>G	GRCh37
NC_000022.9:g.48998474C>G	NCBI36
NG_032160.1:g.32054G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248846.10:c.5368G>C MANE Select	ENSP00000248846.5:p.Val1790Leu
ENST00000248846.9:c.5368G>C	ENSP00000248846.5:p.Val1790Leu
ENST00000425018.1:c.1375G>C	ENSP00000405979.1:p.Val459Leu
ENST00000439308.6:c.*945G>C	ENSP00000397387.2:n.*945G>C
ENST00000491449.5:n.3910G>C
ENST00000498611.5:n.5135G>C
NM_020461.3:c.5368G>C	NP_065194.2:p.Val1790Leu
XR_938347.1:n.5926G>C
XR_938348.1:n.4380G>C
XR_001755343.2:n.5996G>C
XR_001755344.2:n.5989G>C
XR_002958720.1:n.4313G>C
XR_938347.2:n.5930G>C
NM_020461.4:c.5368G>C MANE Select	NP_065194.3:p.Val1790Leu