Canonical Allele Identifier: CA366301144

Gene: PNLDC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.159803999C>T , CM000668.2:g.159803999C>T	GRCh38
NC_000006.11:g.160225031C>T , CM000668.1:g.160225031C>T	GRCh37
NC_000006.10:g.160145021C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001271862.2:c.283C>T MANE Select	NP_001258791.1:p.Pro95Ser
ENST00000392167.4:c.283C>T MANE Select	ENSP00000376007.3:p.Pro95Ser
NM_001271862.1:c.283C>T	NP_001258791.1:p.Pro95Ser
NM_173516.2:c.250C>T	NP_775787.1:p.Pro84Ser
NM_173516.3:c.250C>T	NP_775787.1:p.Pro84Ser
ENST00000275275.9:c.*262C>T	ENSP00000275275.6:n.*262C>T
ENST00000392167.3:c.283C>T	ENSP00000376007.3:p.Pro95Ser
ENST00000609334.1:n.293C>T
ENST00000610041.5:c.*340C>T	ENSP00000476769.1:n.*340C>T
ENST00000610048.5:c.*188C>T	ENSP00000476544.1:n.*188C>T
ENST00000610273.5:c.250C>T	ENSP00000476448.1:p.Pro84Ser
XM_011535491.1:c.250C>T	XP_011533793.1:p.Pro84Ser
XM_011535491.2:c.250C>T	XP_011533793.1:p.Pro84Ser
XM_011535492.1:c.283C>T	XP_011533794.1:p.Pro95Ser
XM_017010312.2:c.379C>T	XP_016865801.1:p.Pro127Ser
XM_017010313.2:c.265C>T	XP_016865802.1:p.Pro89Ser
XM_017010314.2:c.379C>T	XP_016865803.1:p.Pro127Ser
XM_017010315.2:c.169C>T	XP_016865804.1:p.Pro57Ser
XM_017010316.1:c.136C>T	XP_016865805.1:p.Pro46Ser
XM_024446339.1:c.379C>T	XP_024302107.1:p.Pro127Ser