Canonical Allele Identifier: CA412184285

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 1520313
• ClinVar RCV Id: RCV002043930
• dbSNP Id: rs2147179186
• MyVariant Identifiers: chr22:g.50659573G>A (hg19) ; chr22:g.50221144G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221144G>A , CM000684.2:g.50221144G>A	GRCh38
NC_000022.10:g.50659573G>A , CM000684.1:g.50659573G>A	GRCh37
NC_000022.9:g.49001700G>A	NCBI36
NG_032160.1:g.28828C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3215C>T MANE Select	ENSP00000248846.5:p.Pro1072Leu
ENST00000248846.9:c.3215C>T	ENSP00000248846.5:p.Pro1072Leu
ENST00000439308.6:c.3215C>T	ENSP00000397387.2:p.Pro1072Leu
ENST00000491449.5:n.1522C>T
ENST00000498611.5:n.3617+131C>T
NM_020461.3:c.3215C>T	NP_065194.2:p.Pro1072Leu
XR_938347.1:n.3780C>T
XR_938348.1:n.3049+884C>T
XR_001755343.2:n.3784C>T
XR_001755344.2:n.3784C>T
XR_002958720.1:n.3053+884C>T
XR_938347.2:n.3784C>T
NM_020461.4:c.3215C>T MANE Select	NP_065194.3:p.Pro1072Leu