Canonical Allele Identifier: CA9750931

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3918722G>A , CM000682.2:g.3918722G>A	GRCh38
NC_000020.10:g.3899369G>A , CM000682.1:g.3899369G>A	GRCh37
NC_000020.9:g.3847369G>A	NCBI36
NG_008131.3:g.34884G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001386393.1:c.1258G>A MANE Select	NP_001373322.1:p.Ala420Thr
ENST00000610179.7:c.1258G>A MANE Select	ENSP00000477429.2:p.Ala420Thr
NM_001324191.1:c.715G>A	NP_001311120.1:p.Ala239Thr
NM_001324191.2:c.715G>A	NP_001311120.1:p.Ala239Thr
NM_001324193.1:c.280G>A	NP_001311122.1:p.Ala94Thr
NM_001324193.2:c.280G>A	NP_001311122.1:p.Ala94Thr
NM_024960.4:c.715G>A	NP_079236.3:p.Ala239Thr
NM_024960.5:c.715G>A	NP_079236.3:p.Ala239Thr
NM_024960.6:c.715G>A	NP_079236.3:p.Ala239Thr
NM_153638.2:c.1588G>A	NP_705902.2:p.Ala530Thr
NM_153638.3:c.1588G>A	NP_705902.2:p.Ala530Thr
NM_153638.4:c.1588G>A	NP_705902.2:p.Ala530Thr
NM_153640.2:c.715G>A	NP_705904.1:p.Ala239Thr
NM_153640.3:c.715G>A	NP_705904.1:p.Ala239Thr
NM_153640.4:c.715G>A	NP_705904.1:p.Ala239Thr
NR_136715.1:n.1612G>A
NR_136715.2:n.1159G>A
ENST00000316562.8:c.1588G>A	ENSP00000313377.4:p.Ala530Thr
ENST00000316562.9:c.1588G>A	ENSP00000313377.4:p.Ala530Thr
ENST00000336066.7:c.*599G>A	ENSP00000477229.1:n.*599G>A
ENST00000336066.8:c.*599G>A	ENSP00000477229.2:n.*599G>A
ENST00000495692.5:c.280G>A	ENSP00000476745.1:p.Ala94Thr
ENST00000497424.5:c.715G>A	ENSP00000417609.1:p.Ala239Thr
ENST00000610179.5:c.1219G>A	ENSP00000477429.1:p.Ala407Thr
ENST00000610179.6:c.1258G>A	ENSP00000477429.2:p.Ala420Thr
ENST00000621507.1:c.715G>A	ENSP00000481523.1:p.Ala239Thr
ENST00000643504.2:c.*888G>A	ENSP00000495157.2:n.*888G>A
ENST00000646394.1:c.1085G>A
XM_005260835.2:c.973G>A	XP_005260892.1:p.Ala325Thr
XM_005260835.3:c.973G>A	XP_005260892.1:p.Ala325Thr
XM_005260836.3:c.715G>A	XP_005260893.3:p.Ala239Thr
XM_005260836.4:c.715G>A	XP_005260893.3:p.Ala239Thr
XM_006723631.1:c.715G>A	XP_006723694.1:p.Ala239Thr
XM_011529364.1:c.1411G>A	XP_011527666.1:p.Ala471Thr
XM_011529364.3:c.1411G>A	XP_011527666.1:p.Ala471Thr
XM_017028077.2:c.280G>A	XP_016883566.1:p.Ala94Thr
XM_017028078.2:c.280G>A	XP_016883567.1:p.Ala94Thr
XM_017028079.2:c.280G>A	XP_016883568.1:p.Ala94Thr
XM_024452002.1:c.280G>A	XP_024307770.1:p.Ala94Thr
XR_002958533.1:n.2376G>A