Canonical Allele Identifier: CA399621607

Gene: TUBG1 RETREG3

Linked Data

• gnomAD v4: 17-42610440-C-A
• MyVariant Identifiers: chr17:g.40762458C>A (hg19) ; chr17:g.42610440C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42610440C>A , CM000679.2:g.42610440C>A	GRCh38
NC_000017.10:g.40762458C>A , CM000679.1:g.40762458C>A	GRCh37
NC_000017.9:g.38015984C>A	NCBI36
NG_033886.1:g.6101C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251413.8:c.180C>A (TUBG1) MANE Select	ENSP00000251413.2:p.Tyr60Ter
ENST00000588056.2:n.247C>A (TUBG1)
ENST00000589688.2:c.180C>A (TUBG1)	ENSP00000465582.1:p.Tyr60Ter
ENST00000680617.1:n.183C>A (TUBG1)
ENST00000680672.1:n.277C>A (TUBG1)
ENST00000680678.1:n.277C>A (TUBG1)
ENST00000681114.1:n.183C>A (TUBG1)
ENST00000681413.1:c.180C>A (TUBG1)	ENSP00000505664.1:p.Tyr60Ter
ENST00000681490.1:n.277C>A (TUBG1)
ENST00000681919.1:n.183C>A (TUBG1)
ENST00000681947.1:n.277C>A (TUBG1)
ENST00000251413.7:c.180C>A (TUBG1)	ENSP00000251413.2:p.Tyr60Ter
ENST00000585894.5:c.-53+97G>T (RETREG3)	ENSP00000467847.1:n.-53+97G>T
ENST00000588056.1:n.232C>A (TUBG1)
ENST00000588423.1:c.-166+97G>T (RETREG3)	ENSP00000467332.1:n.-166+97G>T
ENST00000589613.1:n.89C>A (TUBG1)
ENST00000589688.1:c.180C>A (TUBG1)	ENSP00000465582.1:p.Tyr60Ter
ENST00000591509.5:c.180C>A (TUBG1)	ENSP00000464867.1:p.Tyr60Ter
ENST00000591547.5:c.-148+97G>T (RETREG3)	ENSP00000465016.1:n.-148+97G>T
NM_001070.4:c.180C>A (TUBG1)	NP_001061.2:p.Tyr60Ter
XM_024450904.1:c.180C>A (TUBG1)	XP_024306672.1:p.Tyr60Ter
NM_001070.5:c.180C>A (TUBG1) MANE Select	NP_001061.2:p.Tyr60Ter