Canonical Allele Identifier: CA398669220

Gene: TVP23B

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18798918T>C , CM000679.2:g.18798918T>C	GRCh38
NC_000017.10:g.18702231T>C , CM000679.1:g.18702231T>C	GRCh37
NC_000017.9:g.18642956T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_016078.6:c.437T>C MANE Select	NP_057162.4:p.Leu146Pro
ENST00000307767.13:c.437T>C MANE Select	ENSP00000305654.8:p.Leu146Pro
NM_001316919.1:c.245T>C	NP_001303848.1:p.Leu82Pro
NM_001316920.1:c.245T>C	NP_001303849.1:p.Leu82Pro
NM_001316921.1:c.245T>C	NP_001303850.1:p.Leu82Pro
NM_001316921.2:c.245T>C	NP_001303850.1:p.Leu82Pro
NM_001316922.1:c.179T>C	NP_001303851.1:p.Leu60Pro
NM_001316922.2:c.179T>C	NP_001303851.1:p.Leu60Pro
NM_001316923.1:c.179T>C	NP_001303852.1:p.Leu60Pro
NM_001316923.2:c.179T>C	NP_001303852.1:p.Leu60Pro
NM_001316924.1:c.437T>C	NP_001303853.1:p.Leu146Pro
NM_001316924.2:c.437T>C	NP_001303853.1:p.Leu146Pro
NM_016078.4:c.437T>C	NP_057162.4:p.Leu146Pro
NM_016078.5:c.437T>C	NP_057162.4:p.Leu146Pro
ENST00000307767.12:c.437T>C	ENSP00000305654.8:p.Leu146Pro
ENST00000476139.5:c.245T>C	ENSP00000463400.2:p.Leu82Pro
ENST00000482741.1:n.1970T>C
ENST00000571018.5:c.*178T>C	ENSP00000460797.1:n.*178T>C
ENST00000572845.1:n.270T>C
ENST00000574226.5:c.437T>C	ENSP00000462334.1:p.Leu146Pro
ENST00000574294.5:c.*195T>C	ENSP00000460239.1:n.*195T>C
ENST00000575261.5:c.245T>C	ENSP00000467001.1:p.Leu82Pro
ENST00000581733.1:c.245T>C	ENSP00000465872.1:p.Leu82Pro
XM_005256673.3:c.437T>C	XP_005256730.1:p.Leu146Pro