Canonical Allele Identifier: CA412180201

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs936501735
• gnomAD v2: 22-50659032-C-G
• gnomAD v3: 22-50220603-C-G
• gnomAD v4: 22-50220603-C-G
• MyVariant Identifiers: chr22:g.50659032C>G (hg19) ; chr22:g.50220603C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220603C>G , CM000684.2:g.50220603C>G	GRCh38
NC_000022.10:g.50659032C>G , CM000684.1:g.50659032C>G	GRCh37
NC_000022.9:g.49001159C>G	NCBI36
NG_032160.1:g.29369G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3756G>C MANE Select	ENSP00000248846.5:p.Leu1252Phe
ENST00000248846.9:c.3756G>C	ENSP00000248846.5:p.Leu1252Phe
ENST00000439308.6:c.3756G>C	ENSP00000397387.2:p.Leu1252Phe
ENST00000491449.5:n.2063G>C
ENST00000498611.5:n.3618-588G>C
NM_020461.3:c.3756G>C	NP_065194.2:p.Leu1252Phe
XR_938347.1:n.4321G>C
XR_938348.1:n.3050-588G>C
XR_001755343.2:n.4325G>C
XR_001755344.2:n.4325G>C
XR_002958720.1:n.3054-588G>C
XR_938347.2:n.4325G>C
NM_020461.4:c.3756G>C MANE Select	NP_065194.3:p.Leu1252Phe