Canonical Allele Identifier: CA399621787

Gene: TUBG1 RETREG3

Linked Data

• MyVariant Identifiers: chr17:g.40762543G>C (hg19) ; chr17:g.42610525G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42610525G>C , CM000679.2:g.42610525G>C	GRCh38
NC_000017.10:g.40762543G>C , CM000679.1:g.40762543G>C	GRCh37
NC_000017.9:g.38016069G>C	NCBI36
NG_033886.1:g.6186G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251413.8:c.265G>C (TUBG1) MANE Select	ENSP00000251413.2:p.Glu89Gln
ENST00000588056.2:n.332G>C (TUBG1)
ENST00000589688.2:c.265G>C (TUBG1)	ENSP00000465582.1:p.Glu89Gln
ENST00000680617.1:n.268G>C (TUBG1)
ENST00000680672.1:n.362G>C (TUBG1)
ENST00000680678.1:n.362G>C (TUBG1)
ENST00000681114.1:n.268G>C (TUBG1)
ENST00000681413.1:c.265G>C (TUBG1)	ENSP00000505664.1:p.Glu89Gln
ENST00000681490.1:n.362G>C (TUBG1)
ENST00000681919.1:n.268G>C (TUBG1)
ENST00000681947.1:n.362G>C (TUBG1)
ENST00000251413.7:c.265G>C (TUBG1)	ENSP00000251413.2:p.Glu89Gln
ENST00000585894.5:c.-53+12C>G (RETREG3)	ENSP00000467847.1:n.-53+12C>G
ENST00000588056.1:n.317G>C (TUBG1)
ENST00000588423.1:c.-166+12C>G (RETREG3)	ENSP00000467332.1:n.-166+12C>G
ENST00000589613.1:n.174G>C (TUBG1)
ENST00000589688.1:c.265G>C (TUBG1)	ENSP00000465582.1:p.Glu89Gln
ENST00000591509.5:c.265G>C (TUBG1)	ENSP00000464867.1:p.Glu89Gln
ENST00000591547.5:c.-148+12C>G (RETREG3)	ENSP00000465016.1:n.-148+12C>G
NM_001070.4:c.265G>C (TUBG1)	NP_001061.2:p.Glu89Gln
XM_024450904.1:c.265G>C (TUBG1)	XP_024306672.1:p.Glu89Gln
NM_001070.5:c.265G>C (TUBG1) MANE Select	NP_001061.2:p.Glu89Gln