Canonical Allele Identifier: CA399626815

Gene: TUBG1

Linked Data

• ClinVar Variation Id: 437135
• ClinVar RCV Id: RCV000502352 ; RCV000584961 ; RCV001291453
• dbSNP Id: rs1555631383
• MyVariant Identifiers: chr17:g.40765949C>T (hg19) ; chr17:g.42613931C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42613931C>T , CM000679.2:g.42613931C>T	GRCh38
NC_000017.10:g.40765949C>T , CM000679.1:g.40765949C>T	GRCh37
NC_000017.9:g.38019475C>T	NCBI36
NG_033886.1:g.9592C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251413.8:c.776C>T MANE Select	ENSP00000251413.2:p.Ser259Leu
ENST00000588056.2:n.1126C>T
ENST00000589688.2:c.*288C>T	ENSP00000465582.1:n.*288C>T
ENST00000679484.1:n.1484C>T
ENST00000680617.1:n.2263C>T
ENST00000680672.1:n.988C>T
ENST00000680678.1:n.873C>T
ENST00000681114.1:n.2263C>T
ENST00000681413.1:c.776C>T	ENSP00000505664.1:p.Ser259Leu
ENST00000681490.1:n.873C>T
ENST00000681919.1:n.2546C>T
ENST00000681947.1:n.873C>T
ENST00000251413.7:c.776C>T	ENSP00000251413.2:p.Ser259Leu
ENST00000589688.1:c.*288C>T	ENSP00000465582.1:n.*288C>T
NM_001070.4:c.776C>T	NP_001061.2:p.Ser259Leu
XM_024450904.1:c.776C>T	XP_024306672.1:p.Ser259Leu
NM_001070.5:c.776C>T MANE Select	NP_001061.2:p.Ser259Leu