Canonical Allele Identifier: CA515375930

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 1528016
• ClinVar RCV Id: RCV002071051
• dbSNP Id: rs878999493
• MyVariant Identifiers: chr22:g.50659071G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220642G>A , CM000684.2:g.50220642G>A	GRCh38
NC_000022.10:g.50659071G>A , CM000684.1:g.50659071G>A	GRCh37
NC_000022.9:g.49001198G>A	NCBI36
NG_032160.1:g.29330C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3717C>T MANE Select	ENSP00000248846.5:p.Cys1239=
ENST00000248846.9:c.3717C>T	ENSP00000248846.5:p.Cys1239=
ENST00000439308.6:c.3717C>T	ENSP00000397387.2:p.Cys1239=
ENST00000491449.5:n.2024C>T
ENST00000498611.5:n.3618-627C>T
NM_020461.3:c.3717C>T	NP_065194.2:p.Cys1239=
XR_938347.1:n.4282C>T
XR_938348.1:n.3050-627C>T
XR_001755343.2:n.4286C>T
XR_001755344.2:n.4286C>T
XR_002958720.1:n.3054-627C>T
XR_938347.2:n.4286C>T
NM_020461.4:c.3717C>T MANE Select	NP_065194.3:p.Cys1239=