Canonical Allele Identifier: CA412181693

Gene: TUBGCP6

Linked Data

• MyVariant Identifiers: chr22:g.50659217C>A (hg19) ; chr22:g.50220788C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220788C>A , CM000684.2:g.50220788C>A	GRCh38
NC_000022.10:g.50659217C>A , CM000684.1:g.50659217C>A	GRCh37
NC_000022.9:g.49001344C>A	NCBI36
NG_032160.1:g.29184G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3571G>T MANE Select	ENSP00000248846.5:p.Val1191Leu
ENST00000248846.9:c.3571G>T	ENSP00000248846.5:p.Val1191Leu
ENST00000439308.6:c.3571G>T	ENSP00000397387.2:p.Val1191Leu
ENST00000491449.5:n.1878G>T
ENST00000498611.5:n.3617+487G>T
NM_020461.3:c.3571G>T	NP_065194.2:p.Val1191Leu
XR_938347.1:n.4136G>T
XR_938348.1:n.3050-773G>T
XR_001755343.2:n.4140G>T
XR_001755344.2:n.4140G>T
XR_002958720.1:n.3054-773G>T
XR_938347.2:n.4140G>T
NM_020461.4:c.3571G>T MANE Select	NP_065194.3:p.Val1191Leu