Canonical Allele Identifier: CA412178312

Gene: TUBGCP6

Linked Data

• MyVariant Identifiers: chr22:g.50658944G>T (hg19) ; chr22:g.50220515G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220515G>T , CM000684.2:g.50220515G>T	GRCh38
NC_000022.10:g.50658944G>T , CM000684.1:g.50658944G>T	GRCh37
NC_000022.9:g.49001071G>T	NCBI36
NG_032160.1:g.29457C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3844C>A MANE Select	ENSP00000248846.5:p.Leu1282Ile
ENST00000248846.9:c.3844C>A	ENSP00000248846.5:p.Leu1282Ile
ENST00000439308.6:c.3844C>A	ENSP00000397387.2:p.Leu1282Ile
ENST00000491449.5:n.2151C>A
ENST00000498611.5:n.3618-500C>A
NM_020461.3:c.3844C>A	NP_065194.2:p.Leu1282Ile
XR_938347.1:n.4409C>A
XR_938348.1:n.3050-500C>A
XR_001755343.2:n.4413C>A
XR_001755344.2:n.4413C>A
XR_002958720.1:n.3054-500C>A
XR_938347.2:n.4413C>A
NM_020461.4:c.3844C>A MANE Select	NP_065194.3:p.Leu1282Ile