Canonical Allele Identifier: CA9750964

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3923290C>T , CM000682.2:g.3923290C>T	GRCh38
NC_000020.10:g.3903937C>T , CM000682.1:g.3903937C>T	GRCh37
NC_000020.9:g.3851937C>T	NCBI36
NG_008131.3:g.39452C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001386393.1:c.1379C>T MANE Select	NP_001373322.1:p.Pro460Leu
ENST00000610179.7:c.1379C>T MANE Select	ENSP00000477429.2:p.Pro460Leu
NM_001324191.1:c.836C>T	NP_001311120.1:p.Pro279Leu
NM_001324191.2:c.836C>T	NP_001311120.1:p.Pro279Leu
NM_001324193.1:c.401C>T	NP_001311122.1:p.Pro134Leu
NM_001324193.2:c.401C>T	NP_001311122.1:p.Pro134Leu
NM_024960.4:c.836C>T	NP_079236.3:p.Pro279Leu
NM_024960.5:c.836C>T	NP_079236.3:p.Pro279Leu
NM_024960.6:c.836C>T	NP_079236.3:p.Pro279Leu
NM_153638.2:c.1709C>T	NP_705902.2:p.Pro570Leu
NM_153638.3:c.1709C>T	NP_705902.2:p.Pro570Leu
NM_153638.4:c.1709C>T	NP_705902.2:p.Pro570Leu
NM_153640.2:c.836C>T	NP_705904.1:p.Pro279Leu
NM_153640.3:c.836C>T	NP_705904.1:p.Pro279Leu
NM_153640.4:c.836C>T	NP_705904.1:p.Pro279Leu
NR_136715.1:n.1733C>T
NR_136715.2:n.1280C>T
ENST00000316562.8:c.1709C>T	ENSP00000313377.4:p.Pro570Leu
ENST00000316562.9:c.1709C>T	ENSP00000313377.4:p.Pro570Leu
ENST00000336066.7:c.*720C>T	ENSP00000477229.1:n.*720C>T
ENST00000336066.8:c.*720C>T	ENSP00000477229.2:n.*720C>T
ENST00000497424.5:c.836C>T	ENSP00000417609.1:p.Pro279Leu
ENST00000610179.5:c.1340C>T	ENSP00000477429.1:p.Pro447Leu
ENST00000610179.6:c.1379C>T	ENSP00000477429.2:p.Pro460Leu
ENST00000621507.1:c.836C>T	ENSP00000481523.1:p.Pro279Leu
ENST00000643504.2:c.*1009C>T	ENSP00000495157.2:n.*1009C>T
ENST00000646394.1:c.1206C>T
XM_005260835.2:c.1094C>T	XP_005260892.1:p.Pro365Leu
XM_005260835.3:c.1094C>T	XP_005260892.1:p.Pro365Leu
XM_005260836.3:c.836C>T	XP_005260893.3:p.Pro279Leu
XM_005260836.4:c.836C>T	XP_005260893.3:p.Pro279Leu
XM_006723631.1:c.836C>T	XP_006723694.1:p.Pro279Leu
XM_011529364.1:c.1532C>T	XP_011527666.1:p.Pro511Leu
XM_011529364.3:c.1532C>T	XP_011527666.1:p.Pro511Leu
XM_017028077.2:c.401C>T	XP_016883566.1:p.Pro134Leu
XM_017028078.2:c.401C>T	XP_016883567.1:p.Pro134Leu
XM_017028079.2:c.401C>T	XP_016883568.1:p.Pro134Leu
XM_024452002.1:c.401C>T	XP_024307770.1:p.Pro134Leu
XR_002958533.1:n.2497C>T