Canonical Allele Identifier: CA355919821

Gene: PDE6B

Linked Data

• MyVariant Identifiers: chr4:g.658732A>T (hg19) ; chr4:g.664943A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.664943A>T , CM000666.2:g.664943A>T	GRCh38
NC_000004.11:g.658732A>T , CM000666.1:g.658732A>T	GRCh37
NC_000004.10:g.648732A>T	NCBI36
NG_009839.1:g.44370A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.2192A>T MANE Select	ENSP00000420295.1:p.Lys731Met
ENST00000255622.10:c.2192A>T	ENSP00000255622.6:p.Lys731Met
ENST00000429163.6:c.1355A>T	ENSP00000406334.2:p.Lys452Met
ENST00000461490.1:c.34A>T
ENST00000471824.6:c.272A>T	ENSP00000417852.2:p.Lys91Met
ENST00000496514.5:c.2192A>T	ENSP00000420295.1:p.Lys731Met
NM_000283.3:c.2192A>T	NP_000274.2:p.Lys731Met
NM_001145291.1:c.2192A>T	NP_001138763.1:p.Lys731Met
NM_001145292.1:c.1355A>T	NP_001138764.1:p.Lys452Met
XM_011513473.1:c.2411A>T	XP_011511775.1:p.Lys804Met
XM_011513474.1:c.2411A>T	XP_011511776.1:p.Lys804Met
XM_011513475.1:c.2192A>T	XP_011511777.1:p.Lys731Met
XM_011513476.1:c.2411A>T	XP_011511778.1:p.Lys804Met
XM_011513477.1:c.1397A>T	XP_011511779.1:p.Lys466Met
XM_011513478.1:c.1121A>T	XP_011511780.1:p.Lys374Met
NM_001350154.1:c.1355A>T	NP_001337083.1:p.Lys452Met
NM_001350155.1:c.1037A>T	NP_001337084.1:p.Lys346Met
XM_011513473.3:c.2411A>T	XP_011511775.1:p.Lys804Met
XM_011513474.3:c.2411A>T	XP_011511776.1:p.Lys804Met
XM_011513475.2:c.2192A>T	XP_011511777.1:p.Lys731Met
XM_011513476.3:c.2411A>T	XP_011511778.1:p.Lys804Met
XM_011513478.2:c.1121A>T	XP_011511780.1:p.Lys374Met
XM_017008284.1:c.1355A>T	XP_016863773.1:p.Lys452Met
XM_017008285.1:c.1355A>T	XP_016863774.1:p.Lys452Met
XM_017008286.1:c.1355A>T	XP_016863775.1:p.Lys452Met
NM_001350154.2:c.1355A>T	NP_001337083.1:p.Lys452Met
NM_001350155.2:c.1037A>T	NP_001337084.1:p.Lys346Met
NM_000283.4:c.2192A>T MANE Select	NP_000274.3:p.Lys731Met
NM_001145291.2:c.2192A>T	NP_001138763.2:p.Lys731Met
NM_001145292.2:c.1355A>T	NP_001138764.2:p.Lys452Met
NM_001350154.3:c.1355A>T	NP_001337083.1:p.Lys452Met
NM_001350155.3:c.1037A>T	NP_001337084.1:p.Lys346Met
NM_001379246.1:c.1355A>T	NP_001366175.1:p.Lys452Met
NM_001379247.1:c.1355A>T	NP_001366176.1:p.Lys452Met