Canonical Allele Identifier: CA325512299

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 437148
• ClinVar RCV Id: RCV000501592 ; RCV001438680 ; RCV002496958
• dbSNP Id: rs879175668
• gnomAD v2: 22-50659392-A-G
• gnomAD v3: 22-50220963-A-G
• gnomAD v4: 22-50220963-A-G
• COSMIC: COSM6243213
• MyVariant Identifiers: chr22:g.50659392A>G (hg19) ; chr22:g.50220963A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220963A>G , CM000684.2:g.50220963A>G	GRCh38
NC_000022.10:g.50659392A>G , CM000684.1:g.50659392A>G	GRCh37
NC_000022.9:g.49001519A>G	NCBI36
NG_032160.1:g.29009T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3396T>C MANE Select	ENSP00000248846.5:p.Asn1132=
ENST00000248846.9:c.3396T>C	ENSP00000248846.5:p.Asn1132=
ENST00000439308.6:c.3396T>C	ENSP00000397387.2:p.Asn1132=
ENST00000491449.5:n.1703T>C
ENST00000498611.5:n.3617+312T>C
NM_020461.3:c.3396T>C	NP_065194.2:p.Asn1132=
XR_938347.1:n.3961T>C
XR_938348.1:n.3050-948T>C
XR_001755343.2:n.3965T>C
XR_001755344.2:n.3965T>C
XR_002958720.1:n.3054-948T>C
XR_938347.2:n.3965T>C
NM_020461.4:c.3396T>C MANE Select	NP_065194.3:p.Asn1132=