Canonical Allele Identifier: CA8579798

Gene: TUBG1 RETREG3

Linked Data

• dbSNP Id: rs758153495
• ExAC: 17:40762464 C / T
• gnomAD v3: 17-42610446-C-T
• gnomAD v4: 17-42610446-C-T
• MyVariant Identifiers: chr17:g.40762464C>T (hg19) ; chr17:g.42610446C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42610446C>T , CM000679.2:g.42610446C>T	GRCh38
NC_000017.10:g.40762464C>T , CM000679.1:g.40762464C>T	GRCh37
NC_000017.9:g.38015990C>T	NCBI36
NG_033886.1:g.6107C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251413.8:c.186C>T (TUBG1) MANE Select	ENSP00000251413.2:p.Pro62=
ENST00000588056.2:n.253C>T (TUBG1)
ENST00000589688.2:c.186C>T (TUBG1)	ENSP00000465582.1:p.Pro62=
ENST00000680617.1:n.189C>T (TUBG1)
ENST00000680672.1:n.283C>T (TUBG1)
ENST00000680678.1:n.283C>T (TUBG1)
ENST00000681114.1:n.189C>T (TUBG1)
ENST00000681413.1:c.186C>T (TUBG1)	ENSP00000505664.1:p.Pro62=
ENST00000681490.1:n.283C>T (TUBG1)
ENST00000681919.1:n.189C>T (TUBG1)
ENST00000681947.1:n.283C>T (TUBG1)
ENST00000251413.7:c.186C>T (TUBG1)	ENSP00000251413.2:p.Pro62=
ENST00000585894.5:c.-53+91G>A (RETREG3)	ENSP00000467847.1:n.-53+91G>A
ENST00000588056.1:n.238C>T (TUBG1)
ENST00000588423.1:c.-166+91G>A (RETREG3)	ENSP00000467332.1:n.-166+91G>A
ENST00000589613.1:n.95C>T (TUBG1)
ENST00000589688.1:c.186C>T (TUBG1)	ENSP00000465582.1:p.Pro62=
ENST00000591509.5:c.186C>T (TUBG1)	ENSP00000464867.1:p.Pro62=
ENST00000591547.5:c.-148+91G>A (RETREG3)	ENSP00000465016.1:n.-148+91G>A
NM_001070.4:c.186C>T (TUBG1)	NP_001061.2:p.Pro62=
XM_024450904.1:c.186C>T (TUBG1)	XP_024306672.1:p.Pro62=
NM_001070.5:c.186C>T (TUBG1) MANE Select	NP_001061.2:p.Pro62=