Canonical Allele Identifier: CA10307781

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs752979535
• ExAC: 22:50658872 G / T
• gnomAD v2: 22-50658872-G-T
• MyVariant Identifiers: chr22:g.50658872G>T (hg19) ; chr22:g.50220443G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220443G>T , CM000684.2:g.50220443G>T	GRCh38
NC_000022.10:g.50658872G>T , CM000684.1:g.50658872G>T	GRCh37
NC_000022.9:g.49000999G>T	NCBI36
NG_032160.1:g.29529C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3916C>A MANE Select	ENSP00000248846.5:p.Leu1306Ile
ENST00000248846.9:c.3916C>A	ENSP00000248846.5:p.Leu1306Ile
ENST00000439308.6:c.3916C>A	ENSP00000397387.2:p.Leu1306Ile
ENST00000491449.5:n.2223C>A
ENST00000498611.5:n.3618-428C>A
NM_020461.3:c.3916C>A	NP_065194.2:p.Leu1306Ile
XR_938347.1:n.4481C>A
XR_938348.1:n.3050-428C>A
XR_001755343.2:n.4485C>A
XR_001755344.2:n.4485C>A
XR_002958720.1:n.3054-428C>A
XR_938347.2:n.4485C>A
NM_020461.4:c.3916C>A MANE Select	NP_065194.3:p.Leu1306Ile