Canonical Allele Identifier: CA4080801

Gene: PNLDC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.159819075C>T , CM000668.2:g.159819075C>T	GRCh38
NC_000006.11:g.160240107C>T , CM000668.1:g.160240107C>T	GRCh37
NC_000006.10:g.160160097C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392167.4:c.1387C>T MANE Select	ENSP00000376007.3:p.Arg463Ter
ENST00000275275.9:c.*1366C>T	ENSP00000275275.6:n.*1366C>T
ENST00000392167.3:c.1387C>T	ENSP00000376007.3:p.Arg463Ter
ENST00000610273.5:c.1354C>T	ENSP00000476448.1:p.Arg452Ter
NM_001271862.1:c.1387C>T	NP_001258791.1:p.Arg463Ter
NM_173516.2:c.1354C>T	NP_775787.1:p.Arg452Ter
XM_011535491.1:c.1354C>T	XP_011533793.1:p.Arg452Ter
XM_011535492.1:c.1243C>T	XP_011533794.1:p.Arg415Ter
XM_011535493.1:c.1006C>T	XP_011533795.1:p.Arg336Ter
XM_011535491.2:c.1354C>T	XP_011533793.1:p.Arg452Ter
XM_011535493.3:c.1006C>T	XP_011533795.1:p.Arg336Ter
XM_017010312.2:c.1483C>T	XP_016865801.1:p.Arg495Ter
XM_017010313.2:c.1369C>T	XP_016865802.1:p.Arg457Ter
XM_017010314.2:c.1339C>T	XP_016865803.1:p.Arg447Ter
XM_017010315.2:c.1273C>T	XP_016865804.1:p.Arg425Ter
XM_017010316.1:c.1240C>T	XP_016865805.1:p.Arg414Ter
NM_001271862.2:c.1387C>T MANE Select	NP_001258791.1:p.Arg463Ter
NM_173516.3:c.1354C>T	NP_775787.1:p.Arg452Ter