Canonical Allele Identifier: CA412184251

Gene: TUBGCP6

Linked Data

• MyVariant Identifiers: chr22:g.50659567T>A (hg19) ; chr22:g.50221138T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221138T>A , CM000684.2:g.50221138T>A	GRCh38
NC_000022.10:g.50659567T>A , CM000684.1:g.50659567T>A	GRCh37
NC_000022.9:g.49001694T>A	NCBI36
NG_032160.1:g.28834A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3221A>T MANE Select	ENSP00000248846.5:p.Gln1074Leu
ENST00000248846.9:c.3221A>T	ENSP00000248846.5:p.Gln1074Leu
ENST00000439308.6:c.3221A>T	ENSP00000397387.2:p.Gln1074Leu
ENST00000491449.5:n.1528A>T
ENST00000498611.5:n.3617+137A>T
NM_020461.3:c.3221A>T	NP_065194.2:p.Gln1074Leu
XR_938347.1:n.3786A>T
XR_938348.1:n.3049+890A>T
XR_001755343.2:n.3790A>T
XR_001755344.2:n.3790A>T
XR_002958720.1:n.3053+890A>T
XR_938347.2:n.3790A>T
NM_020461.4:c.3221A>T MANE Select	NP_065194.3:p.Gln1074Leu