Canonical Allele Identifier: CA412183883

Gene: TUBGCP6

Linked Data

• MyVariant Identifiers: chr22:g.50659518T>A (hg19) ; chr22:g.50221089T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3270A>T MANE Select	ENSP00000248846.5:p.Leu1090Phe
ENST00000248846.9:c.3270A>T	ENSP00000248846.5:p.Leu1090Phe
ENST00000439308.6:c.3270A>T	ENSP00000397387.2:p.Leu1090Phe
ENST00000491449.5:n.1577A>T
ENST00000498611.5:n.3617+186A>T
NM_020461.3:c.3270A>T	NP_065194.2:p.Leu1090Phe
XR_938347.1:n.3835A>T
XR_938348.1:n.3049+939A>T
XR_001755343.2:n.3839A>T
XR_001755344.2:n.3839A>T
XR_002958720.1:n.3053+939A>T
XR_938347.2:n.3839A>T
NM_020461.4:c.3270A>T MANE Select	NP_065194.3:p.Leu1090Phe