Canonical Allele Identifier: CA8580028

Gene: TUBG1

Linked Data

• dbSNP Id: rs745400604
• ExAC: 17:40766441 C / A
• gnomAD v2: 17-40766441-C-A
• MyVariant Identifiers: chr17:g.40766441C>A (hg19) ; chr17:g.42614423C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42614423C>A , CM000679.2:g.42614423C>A	GRCh38
NC_000017.10:g.40766441C>A , CM000679.1:g.40766441C>A	GRCh37
NC_000017.9:g.38019967C>A	NCBI36
NG_033886.1:g.10084C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251413.8:c.996+11C>A MANE Select	ENSP00000251413.2:n.996+11C>A
ENST00000588056.2:n.1618C>A
ENST00000589688.2:c.*508+11C>A	ENSP00000465582.1:n.*508+11C>A
ENST00000679484.1:n.1976C>A
ENST00000680617.1:n.2755C>A
ENST00000680672.1:n.1208+11C>A
ENST00000680678.1:n.1354+11C>A
ENST00000681114.1:n.2744+11C>A
ENST00000681413.1:c.1134+11C>A	ENSP00000505664.1:n.1134+11C>A
ENST00000681490.1:n.1365C>A
ENST00000681919.1:n.3027+11C>A
ENST00000681947.1:n.1104C>A
ENST00000251413.7:c.996+11C>A	ENSP00000251413.2:n.996+11C>A
ENST00000589688.1:c.*508+11C>A	ENSP00000465582.1:n.*508+11C>A
NM_001070.4:c.996+11C>A	NP_001061.2:n.996+11C>A
XM_024450904.1:c.1257+11C>A	XP_024306672.1:n.1257+11C>A
NM_001070.5:c.996+11C>A MANE Select	NP_001061.2:n.996+11C>A