Canonical Allele Identifier: CA412184792

Gene: TUBGCP6

Linked Data

• MyVariant Identifiers: chr22:g.50659669G>A (hg19) ; chr22:g.50221240G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221240G>A , CM000684.2:g.50221240G>A	GRCh38
NC_000022.10:g.50659669G>A , CM000684.1:g.50659669G>A	GRCh37
NC_000022.9:g.49001796G>A	NCBI36
NG_032160.1:g.28732C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3119C>T MANE Select	ENSP00000248846.5:p.Ala1040Val
ENST00000248846.9:c.3119C>T	ENSP00000248846.5:p.Ala1040Val
ENST00000439308.6:c.3119C>T	ENSP00000397387.2:p.Ala1040Val
ENST00000491449.5:n.1426C>T
ENST00000498611.5:n.3617+35C>T
NM_020461.3:c.3119C>T	NP_065194.2:p.Ala1040Val
XR_938347.1:n.3684C>T
XR_938348.1:n.3049+788C>T
XR_001755343.2:n.3688C>T
XR_001755344.2:n.3688C>T
XR_002958720.1:n.3053+788C>T
XR_938347.2:n.3688C>T
NM_020461.4:c.3119C>T MANE Select	NP_065194.3:p.Ala1040Val