Canonical Allele Identifier: CA412103136

Gene: TUBGCP6

Linked Data

• MyVariant Identifiers: chr22:g.50662823A>C (hg19) ; chr22:g.50224394A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224394A>C , CM000684.2:g.50224394A>C	GRCh38
NC_000022.10:g.50662823A>C , CM000684.1:g.50662823A>C	GRCh37
NC_000022.9:g.49004950A>C	NCBI36
NG_032160.1:g.25578T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.2092T>G MANE Select	ENSP00000248846.5:p.Leu698Val
ENST00000248846.9:c.2092T>G	ENSP00000248846.5:p.Leu698Val
ENST00000439308.6:c.2092T>G	ENSP00000397387.2:p.Leu698Val
ENST00000473946.1:n.401T>G
ENST00000489511.5:n.109T>G
ENST00000491449.5:n.399T>G
ENST00000498611.5:n.2625T>G
NM_020461.3:c.2092T>G	NP_065194.2:p.Leu698Val
XR_938347.1:n.2657T>G
XR_938348.1:n.2657T>G
XR_001755343.2:n.2661T>G
XR_001755344.2:n.2661T>G
XR_002958720.1:n.2661T>G
XR_938347.2:n.2661T>G
NM_020461.4:c.2092T>G MANE Select	NP_065194.3:p.Leu698Val