Canonical Allele Identifier: CA412180270

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50220609-G-C
• MyVariant Identifiers: chr22:g.50659038G>C (hg19) ; chr22:g.50220609G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220609G>C , CM000684.2:g.50220609G>C	GRCh38
NC_000022.10:g.50659038G>C , CM000684.1:g.50659038G>C	GRCh37
NC_000022.9:g.49001165G>C	NCBI36
NG_032160.1:g.29363C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3750C>G MANE Select	ENSP00000248846.5:p.Ile1250Met
ENST00000248846.9:c.3750C>G	ENSP00000248846.5:p.Ile1250Met
ENST00000439308.6:c.3750C>G	ENSP00000397387.2:p.Ile1250Met
ENST00000491449.5:n.2057C>G
ENST00000498611.5:n.3618-594C>G
NM_020461.3:c.3750C>G	NP_065194.2:p.Ile1250Met
XR_938347.1:n.4315C>G
XR_938348.1:n.3050-594C>G
XR_001755343.2:n.4319C>G
XR_001755344.2:n.4319C>G
XR_002958720.1:n.3054-594C>G
XR_938347.2:n.4319C>G
NM_020461.4:c.3750C>G MANE Select	NP_065194.3:p.Ile1250Met