Canonical Allele Identifier: CA408122925

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3923281T>A , CM000682.2:g.3923281T>A	GRCh38
NC_000020.10:g.3903928T>A , CM000682.1:g.3903928T>A	GRCh37
NC_000020.9:g.3851928T>A	NCBI36
NG_008131.3:g.39443T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001386393.1:c.1370T>A MANE Select	NP_001373322.1:p.Leu457Ter
ENST00000610179.7:c.1370T>A MANE Select	ENSP00000477429.2:p.Leu457Ter
NM_001324191.1:c.827T>A	NP_001311120.1:p.Leu276Ter
NM_001324191.2:c.827T>A	NP_001311120.1:p.Leu276Ter
NM_001324193.1:c.392T>A	NP_001311122.1:p.Leu131Ter
NM_001324193.2:c.392T>A	NP_001311122.1:p.Leu131Ter
NM_024960.4:c.827T>A	NP_079236.3:p.Leu276Ter
NM_024960.5:c.827T>A	NP_079236.3:p.Leu276Ter
NM_024960.6:c.827T>A	NP_079236.3:p.Leu276Ter
NM_153638.2:c.1700T>A	NP_705902.2:p.Leu567Ter
NM_153638.3:c.1700T>A	NP_705902.2:p.Leu567Ter
NM_153638.4:c.1700T>A	NP_705902.2:p.Leu567Ter
NM_153640.2:c.827T>A	NP_705904.1:p.Leu276Ter
NM_153640.3:c.827T>A	NP_705904.1:p.Leu276Ter
NM_153640.4:c.827T>A	NP_705904.1:p.Leu276Ter
NR_136715.1:n.1724T>A
NR_136715.2:n.1271T>A
ENST00000316562.8:c.1700T>A	ENSP00000313377.4:p.Leu567Ter
ENST00000316562.9:c.1700T>A	ENSP00000313377.4:p.Leu567Ter
ENST00000336066.7:c.*711T>A	ENSP00000477229.1:n.*711T>A
ENST00000336066.8:c.*711T>A	ENSP00000477229.2:n.*711T>A
ENST00000497424.5:c.827T>A	ENSP00000417609.1:p.Leu276Ter
ENST00000610179.5:c.1331T>A	ENSP00000477429.1:p.Leu444Ter
ENST00000610179.6:c.1370T>A	ENSP00000477429.2:p.Leu457Ter
ENST00000621507.1:c.827T>A	ENSP00000481523.1:p.Leu276Ter
ENST00000643504.2:c.*1000T>A	ENSP00000495157.2:n.*1000T>A
ENST00000646394.1:c.1197T>A
XM_005260835.2:c.1085T>A	XP_005260892.1:p.Leu362Ter
XM_005260835.3:c.1085T>A	XP_005260892.1:p.Leu362Ter
XM_005260836.3:c.827T>A	XP_005260893.3:p.Leu276Ter
XM_005260836.4:c.827T>A	XP_005260893.3:p.Leu276Ter
XM_006723631.1:c.827T>A	XP_006723694.1:p.Leu276Ter
XM_011529364.1:c.1523T>A	XP_011527666.1:p.Leu508Ter
XM_011529364.3:c.1523T>A	XP_011527666.1:p.Leu508Ter
XM_017028077.2:c.392T>A	XP_016883566.1:p.Leu131Ter
XM_017028078.2:c.392T>A	XP_016883567.1:p.Leu131Ter
XM_017028079.2:c.392T>A	XP_016883568.1:p.Leu131Ter
XM_024452002.1:c.392T>A	XP_024307770.1:p.Leu131Ter
XR_002958533.1:n.2488T>A