Canonical Allele Identifier: CA399621791

Gene: TUBG1 RETREG3

Linked Data

• MyVariant Identifiers: chr17:g.40762544A>T (hg19) ; chr17:g.42610526A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42610526A>T , CM000679.2:g.42610526A>T	GRCh38
NC_000017.10:g.40762544A>T , CM000679.1:g.40762544A>T	GRCh37
NC_000017.9:g.38016070A>T	NCBI36
NG_033886.1:g.6187A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251413.8:c.266A>T (TUBG1) MANE Select	ENSP00000251413.2:p.Glu89Val
ENST00000588056.2:n.333A>T (TUBG1)
ENST00000589688.2:c.266A>T (TUBG1)	ENSP00000465582.1:p.Glu89Val
ENST00000680617.1:n.269A>T (TUBG1)
ENST00000680672.1:n.363A>T (TUBG1)
ENST00000680678.1:n.363A>T (TUBG1)
ENST00000681114.1:n.269A>T (TUBG1)
ENST00000681413.1:c.266A>T (TUBG1)	ENSP00000505664.1:p.Glu89Val
ENST00000681490.1:n.363A>T (TUBG1)
ENST00000681919.1:n.269A>T (TUBG1)
ENST00000681947.1:n.363A>T (TUBG1)
ENST00000251413.7:c.266A>T (TUBG1)	ENSP00000251413.2:p.Glu89Val
ENST00000585894.5:c.-53+11T>A (RETREG3)	ENSP00000467847.1:n.-53+11T>A
ENST00000588056.1:n.318A>T (TUBG1)
ENST00000588423.1:c.-166+11T>A (RETREG3)	ENSP00000467332.1:n.-166+11T>A
ENST00000589613.1:n.175A>T (TUBG1)
ENST00000589688.1:c.266A>T (TUBG1)	ENSP00000465582.1:p.Glu89Val
ENST00000591509.5:c.266A>T (TUBG1)	ENSP00000464867.1:p.Glu89Val
ENST00000591547.5:c.-148+11T>A (RETREG3)	ENSP00000465016.1:n.-148+11T>A
NM_001070.4:c.266A>T (TUBG1)	NP_001061.2:p.Glu89Val
XM_024450904.1:c.266A>T (TUBG1)	XP_024306672.1:p.Glu89Val
NM_001070.5:c.266A>T (TUBG1) MANE Select	NP_001061.2:p.Glu89Val