Canonical Allele Identifier: CA355919666

Gene: PDE6B

Linked Data

• gnomAD v4: 4-664906-C-G
• MyVariant Identifiers: chr4:g.658695C>G (hg19) ; chr4:g.664906C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.664906C>G , CM000666.2:g.664906C>G	GRCh38
NC_000004.11:g.658695C>G , CM000666.1:g.658695C>G	GRCh37
NC_000004.10:g.648695C>G	NCBI36
NG_009839.1:g.44333C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.2155C>G MANE Select	ENSP00000420295.1:p.Leu719Val
ENST00000255622.10:c.2155C>G	ENSP00000255622.6:p.Leu719Val
ENST00000429163.6:c.1318C>G	ENSP00000406334.2:p.Leu440Val
ENST00000460119.1:n.525C>G
ENST00000471824.6:c.235C>G	ENSP00000417852.2:p.Leu79Val
ENST00000496514.5:c.2155C>G	ENSP00000420295.1:p.Leu719Val
NM_000283.3:c.2155C>G	NP_000274.2:p.Leu719Val
NM_001145291.1:c.2155C>G	NP_001138763.1:p.Leu719Val
NM_001145292.1:c.1318C>G	NP_001138764.1:p.Leu440Val
XM_011513473.1:c.2374C>G	XP_011511775.1:p.Leu792Val
XM_011513474.1:c.2374C>G	XP_011511776.1:p.Leu792Val
XM_011513475.1:c.2155C>G	XP_011511777.1:p.Leu719Val
XM_011513476.1:c.2374C>G	XP_011511778.1:p.Leu792Val
XM_011513477.1:c.1360C>G	XP_011511779.1:p.Leu454Val
XM_011513478.1:c.1084C>G	XP_011511780.1:p.Leu362Val
NM_001350154.1:c.1318C>G	NP_001337083.1:p.Leu440Val
NM_001350155.1:c.1000C>G	NP_001337084.1:p.Leu334Val
XM_011513473.3:c.2374C>G	XP_011511775.1:p.Leu792Val
XM_011513474.3:c.2374C>G	XP_011511776.1:p.Leu792Val
XM_011513475.2:c.2155C>G	XP_011511777.1:p.Leu719Val
XM_011513476.3:c.2374C>G	XP_011511778.1:p.Leu792Val
XM_011513478.2:c.1084C>G	XP_011511780.1:p.Leu362Val
XM_017008284.1:c.1318C>G	XP_016863773.1:p.Leu440Val
XM_017008285.1:c.1318C>G	XP_016863774.1:p.Leu440Val
XM_017008286.1:c.1318C>G	XP_016863775.1:p.Leu440Val
NM_001350154.2:c.1318C>G	NP_001337083.1:p.Leu440Val
NM_001350155.2:c.1000C>G	NP_001337084.1:p.Leu334Val
NM_000283.4:c.2155C>G MANE Select	NP_000274.3:p.Leu719Val
NM_001145291.2:c.2155C>G	NP_001138763.2:p.Leu719Val
NM_001145292.2:c.1318C>G	NP_001138764.2:p.Leu440Val
NM_001350154.3:c.1318C>G	NP_001337083.1:p.Leu440Val
NM_001350155.3:c.1000C>G	NP_001337084.1:p.Leu334Val
NM_001379246.1:c.1318C>G	NP_001366175.1:p.Leu440Val
NM_001379247.1:c.1318C>G	NP_001366176.1:p.Leu440Val