Canonical Allele Identifier: CA399628594

Gene: TUBG1

Linked Data

• ClinVar Variation Id: 452987
• ClinVar RCV Id: RCV000523435 ; RCV001809474
• dbSNP Id: rs1555631467
• gnomAD v4: 17-42614521-G-A
• MyVariant Identifiers: chr17:g.40766539G>A (hg19) ; chr17:g.42614521G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42614521G>A , CM000679.2:g.42614521G>A	GRCh38
NC_000017.10:g.40766539G>A , CM000679.1:g.40766539G>A	GRCh37
NC_000017.9:g.38020065G>A	NCBI36
NG_033886.1:g.10182G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251413.8:c.1022G>A MANE Select	ENSP00000251413.2:p.Arg341Gln
ENST00000588056.2:n.1716G>A
ENST00000589688.2:c.*534G>A	ENSP00000465582.1:n.*534G>A
ENST00000679484.1:n.2074G>A
ENST00000680617.1:n.2853G>A
ENST00000680672.1:n.1234G>A
ENST00000680678.1:n.1380G>A
ENST00000681114.1:n.2770G>A
ENST00000681413.1:c.1160G>A	ENSP00000505664.1:p.Arg387Gln
ENST00000681490.1:n.1463G>A
ENST00000681919.1:n.3053G>A
ENST00000681947.1:n.1202G>A
ENST00000251413.7:c.1022G>A	ENSP00000251413.2:p.Arg341Gln
ENST00000589688.1:c.*534G>A	ENSP00000465582.1:n.*534G>A
NM_001070.4:c.1022G>A	NP_001061.2:p.Arg341Gln
XM_024450904.1:c.1283G>A	XP_024306672.1:p.Arg428Gln
NM_001070.5:c.1022G>A MANE Select	NP_001061.2:p.Arg341Gln