Canonical Allele Identifier: CA398665994

Gene: TVP23B

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18790926C>A , CM000679.2:g.18790926C>A	GRCh38
NC_000017.10:g.18694239C>A , CM000679.1:g.18694239C>A	GRCh37
NC_000017.9:g.18634964C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307767.13:c.126C>A MANE Select	ENSP00000305654.8:p.Phe42Leu
ENST00000307767.12:c.126C>A	ENSP00000305654.8:p.Phe42Leu
ENST00000476139.5:c.-67C>A	ENSP00000463400.2:n.-67C>A
ENST00000571018.5:c.95+1491C>A	ENSP00000460797.1:n.95+1491C>A
ENST00000572845.1:n.73+1491C>A
ENST00000574226.5:c.126C>A	ENSP00000462334.1:p.Phe42Leu
ENST00000574294.5:c.126C>A	ENSP00000460239.1:p.Phe42Leu
ENST00000575261.5:c.-67C>A	ENSP00000467001.1:n.-67C>A
ENST00000581733.1:c.-67C>A	ENSP00000465872.1:n.-67C>A
NM_001316919.1:c.-67C>A	NP_001303848.1:n.-67C>A
NM_001316920.1:c.-67C>A	NP_001303849.1:n.-67C>A
NM_001316921.1:c.-67C>A	NP_001303850.1:n.-67C>A
NM_001316922.1:c.-53C>A	NP_001303851.1:n.-53C>A
NM_001316923.1:c.-19+1491C>A	NP_001303852.1:n.-19+1491C>A
NM_001316924.1:c.126C>A	NP_001303853.1:p.Phe42Leu
NM_016078.4:c.126C>A	NP_057162.4:p.Phe42Leu
NM_016078.5:c.126C>A	NP_057162.4:p.Phe42Leu
XM_005256673.3:c.126C>A	XP_005256730.1:p.Phe42Leu
NM_016078.6:c.126C>A MANE Select	NP_057162.4:p.Phe42Leu
NM_001316924.2:c.126C>A	NP_001303853.1:p.Phe42Leu
NM_001316921.2:c.-67C>A	NP_001303850.1:n.-67C>A
NM_001316922.2:c.-53C>A	NP_001303851.1:n.-53C>A
NM_001316923.2:c.-19+1491C>A	NP_001303852.1:n.-19+1491C>A