Canonical Allele Identifier: CA515376997

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs1408963836
• gnomAD v3: 22-50221089-T-C
• gnomAD v4: 22-50221089-T-C
• COSMIC: COSM4738375
• MyVariant Identifiers: chr22:g.50659518T>C (hg19) ; chr22:g.50221089T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221089T>C , CM000684.2:g.50221089T>C	GRCh38
NC_000022.10:g.50659518T>C , CM000684.1:g.50659518T>C	GRCh37
NC_000022.9:g.49001645T>C	NCBI36
NG_032160.1:g.28883A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3270A>G MANE Select	ENSP00000248846.5:p.Leu1090=
ENST00000248846.9:c.3270A>G	ENSP00000248846.5:p.Leu1090=
ENST00000439308.6:c.3270A>G	ENSP00000397387.2:p.Leu1090=
ENST00000491449.5:n.1577A>G
ENST00000498611.5:n.3617+186A>G
NM_020461.3:c.3270A>G	NP_065194.2:p.Leu1090=
XR_938347.1:n.3835A>G
XR_938348.1:n.3049+939A>G
XR_001755343.2:n.3839A>G
XR_001755344.2:n.3839A>G
XR_002958720.1:n.3053+939A>G
XR_938347.2:n.3839A>G
NM_020461.4:c.3270A>G MANE Select	NP_065194.3:p.Leu1090=