Canonical Allele Identifier: CA412182585

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 2135374
• ClinVar RCV Id: RCV003048599
• dbSNP Id: rs1602509203
• gnomAD v4: 22-50220938-T-G
• MyVariant Identifiers: chr22:g.50659367T>G (hg19) ; chr22:g.50220938T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220938T>G , CM000684.2:g.50220938T>G	GRCh38
NC_000022.10:g.50659367T>G , CM000684.1:g.50659367T>G	GRCh37
NC_000022.9:g.49001494T>G	NCBI36
NG_032160.1:g.29034A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3421A>C MANE Select	ENSP00000248846.5:p.Ser1141Arg
ENST00000248846.9:c.3421A>C	ENSP00000248846.5:p.Ser1141Arg
ENST00000439308.6:c.3421A>C	ENSP00000397387.2:p.Ser1141Arg
ENST00000491449.5:n.1728A>C
ENST00000498611.5:n.3617+337A>C
NM_020461.3:c.3421A>C	NP_065194.2:p.Ser1141Arg
XR_938347.1:n.3986A>C
XR_938348.1:n.3050-923A>C
XR_001755343.2:n.3990A>C
XR_001755344.2:n.3990A>C
XR_002958720.1:n.3054-923A>C
XR_938347.2:n.3990A>C
NM_020461.4:c.3421A>C MANE Select	NP_065194.3:p.Ser1141Arg