Canonical Allele Identifier: CA366300337

Gene: PNLDC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.159801150C>G , CM000668.2:g.159801150C>G	GRCh38
NC_000006.11:g.160222182C>G , CM000668.1:g.160222182C>G	GRCh37
NC_000006.10:g.160142172C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001271862.2:c.172C>G MANE Select	NP_001258791.1:p.Arg58Gly
ENST00000392167.4:c.172C>G MANE Select	ENSP00000376007.3:p.Arg58Gly
NM_001271862.1:c.172C>G	NP_001258791.1:p.Arg58Gly
NM_173516.2:c.139C>G	NP_775787.1:p.Arg47Gly
NM_173516.3:c.139C>G	NP_775787.1:p.Arg47Gly
ENST00000275275.9:c.*151C>G	ENSP00000275275.6:n.*151C>G
ENST00000392167.3:c.172C>G	ENSP00000376007.3:p.Arg58Gly
ENST00000609334.1:n.182C>G
ENST00000610041.5:c.*151C>G	ENSP00000476769.1:n.*151C>G
ENST00000610048.5:c.*113+321C>G	ENSP00000476544.1:n.*113+321C>G
ENST00000610273.5:c.139C>G	ENSP00000476448.1:p.Arg47Gly
XM_011535491.1:c.139C>G	XP_011533793.1:p.Arg47Gly
XM_011535491.2:c.139C>G	XP_011533793.1:p.Arg47Gly
XM_011535492.1:c.172C>G	XP_011533794.1:p.Arg58Gly
XM_017010312.2:c.268C>G	XP_016865801.1:p.Arg90Gly
XM_017010313.2:c.230+321C>G	XP_016865802.1:n.230+321C>G
XM_017010314.2:c.268C>G	XP_016865803.1:p.Arg90Gly
XM_017010315.2:c.134+321C>G	XP_016865804.1:n.134+321C>G
XM_017010316.1:c.101+321C>G	XP_016865805.1:n.101+321C>G
XM_024446339.1:c.268C>G	XP_024302107.1:p.Arg90Gly