Canonical Allele Identifier: CA9750571

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3889485C>T , CM000682.2:g.3889485C>T	GRCh38
NC_000020.10:g.3870132C>T , CM000682.1:g.3870132C>T	GRCh37
NC_000020.9:g.3818132C>T	NCBI36
NG_008131.3:g.5647C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001386393.1:c.55C>T MANE Select	NP_001373322.1:p.Leu19Phe
ENST00000610179.7:c.55C>T MANE Select	ENSP00000477429.2:p.Leu19Phe
NM_001324191.1:c.-657C>T	NP_001311120.1:n.-657C>T
NM_001324191.2:c.-657C>T	NP_001311120.1:n.-657C>T
NM_001324192.1:c.385C>T	NP_001311121.1:p.Leu129Phe
NM_024960.4:c.-246+581C>T	NP_079236.3:n.-246+581C>T
NM_024960.5:c.-246+581C>T	NP_079236.3:n.-246+581C>T
NM_024960.6:c.-246+581C>T	NP_079236.3:n.-246+581C>T
NM_153638.2:c.385C>T	NP_705902.2:p.Leu129Phe
NM_153638.3:c.385C>T	NP_705902.2:p.Leu129Phe
NM_153638.4:c.385C>T	NP_705902.2:p.Leu129Phe
NR_136715.1:n.552C>T
NR_136715.2:n.99C>T
ENST00000316562.8:c.385C>T	ENSP00000313377.4:p.Leu129Phe
ENST00000316562.9:c.385C>T	ENSP00000313377.4:p.Leu129Phe
ENST00000336066.7:c.16C>T	ENSP00000477229.1:p.Leu6Phe
ENST00000336066.8:c.55C>T	ENSP00000477229.2:p.Leu19Phe
ENST00000495692.5:c.-538+469C>T	ENSP00000476745.1:n.-538+469C>T
ENST00000497424.5:c.-246+581C>T	ENSP00000417609.1:n.-246+581C>T
ENST00000610179.5:c.16C>T	ENSP00000477429.1:p.Leu6Phe
ENST00000610179.6:c.55C>T	ENSP00000477429.2:p.Leu19Phe
ENST00000643504.2:c.55C>T	ENSP00000495157.2:p.Leu19Phe
XM_005260836.3:c.-246+469C>T	XP_005260893.3:n.-246+469C>T
XM_005260836.4:c.-246+469C>T	XP_005260893.3:n.-246+469C>T
XM_011529364.1:c.385C>T	XP_011527666.1:p.Leu129Phe
XM_011529364.3:c.385C>T	XP_011527666.1:p.Leu129Phe
XM_011529365.1:c.385C>T	XP_011527667.1:p.Leu129Phe
XM_011529365.2:c.385C>T	XP_011527667.1:p.Leu129Phe
XM_017028079.2:c.-538+469C>T	XP_016883568.1:n.-538+469C>T
XM_024452002.1:c.-538+581C>T	XP_024307770.1:n.-538+581C>T
XR_002958533.1:n.546C>T