Canonical Allele Identifier: CA399621603

Gene: TUBG1 RETREG3

Linked Data

• dbSNP Id: rs1398562307
• gnomAD v3: 17-42610438-T-C
• gnomAD v4: 17-42610438-T-C
• MyVariant Identifiers: chr17:g.40762456T>C (hg19) ; chr17:g.42610438T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42610438T>C , CM000679.2:g.42610438T>C	GRCh38
NC_000017.10:g.40762456T>C , CM000679.1:g.40762456T>C	GRCh37
NC_000017.9:g.38015982T>C	NCBI36
NG_033886.1:g.6099T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251413.8:c.178T>C (TUBG1) MANE Select	ENSP00000251413.2:p.Tyr60His
ENST00000588056.2:n.245T>C (TUBG1)
ENST00000589688.2:c.178T>C (TUBG1)	ENSP00000465582.1:p.Tyr60His
ENST00000680617.1:n.181T>C (TUBG1)
ENST00000680672.1:n.275T>C (TUBG1)
ENST00000680678.1:n.275T>C (TUBG1)
ENST00000681114.1:n.181T>C (TUBG1)
ENST00000681413.1:c.178T>C (TUBG1)	ENSP00000505664.1:p.Tyr60His
ENST00000681490.1:n.275T>C (TUBG1)
ENST00000681919.1:n.181T>C (TUBG1)
ENST00000681947.1:n.275T>C (TUBG1)
ENST00000251413.7:c.178T>C (TUBG1)	ENSP00000251413.2:p.Tyr60His
ENST00000585894.5:c.-53+99A>G (RETREG3)	ENSP00000467847.1:n.-53+99A>G
ENST00000588056.1:n.230T>C (TUBG1)
ENST00000588423.1:c.-166+99A>G (RETREG3)	ENSP00000467332.1:n.-166+99A>G
ENST00000589613.1:n.87T>C (TUBG1)
ENST00000589688.1:c.178T>C (TUBG1)	ENSP00000465582.1:p.Tyr60His
ENST00000591509.5:c.178T>C (TUBG1)	ENSP00000464867.1:p.Tyr60His
ENST00000591547.5:c.-148+99A>G (RETREG3)	ENSP00000465016.1:n.-148+99A>G
NM_001070.4:c.178T>C (TUBG1)	NP_001061.2:p.Tyr60His
XM_024450904.1:c.178T>C (TUBG1)	XP_024306672.1:p.Tyr60His
NM_001070.5:c.178T>C (TUBG1) MANE Select	NP_001061.2:p.Tyr60His