Canonical Allele Identifier: CA9750929

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3918719A>G , CM000682.2:g.3918719A>G	GRCh38
NC_000020.10:g.3899366A>G , CM000682.1:g.3899366A>G	GRCh37
NC_000020.9:g.3847366A>G	NCBI36
NG_008131.3:g.34881A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001386393.1:c.1255A>G MANE Select	NP_001373322.1:p.Ile419Val
ENST00000610179.7:c.1255A>G MANE Select	ENSP00000477429.2:p.Ile419Val
NM_001324191.1:c.712A>G	NP_001311120.1:p.Ile238Val
NM_001324191.2:c.712A>G	NP_001311120.1:p.Ile238Val
NM_001324193.1:c.277A>G	NP_001311122.1:p.Ile93Val
NM_001324193.2:c.277A>G	NP_001311122.1:p.Ile93Val
NM_024960.4:c.712A>G	NP_079236.3:p.Ile238Val
NM_024960.5:c.712A>G	NP_079236.3:p.Ile238Val
NM_024960.6:c.712A>G	NP_079236.3:p.Ile238Val
NM_153638.2:c.1585A>G	NP_705902.2:p.Ile529Val
NM_153638.3:c.1585A>G	NP_705902.2:p.Ile529Val
NM_153638.4:c.1585A>G	NP_705902.2:p.Ile529Val
NM_153640.2:c.712A>G	NP_705904.1:p.Ile238Val
NM_153640.3:c.712A>G	NP_705904.1:p.Ile238Val
NM_153640.4:c.712A>G	NP_705904.1:p.Ile238Val
NR_136715.1:n.1609A>G
NR_136715.2:n.1156A>G
ENST00000316562.8:c.1585A>G	ENSP00000313377.4:p.Ile529Val
ENST00000316562.9:c.1585A>G	ENSP00000313377.4:p.Ile529Val
ENST00000336066.7:c.*596A>G	ENSP00000477229.1:n.*596A>G
ENST00000336066.8:c.*596A>G	ENSP00000477229.2:n.*596A>G
ENST00000495692.5:c.277A>G	ENSP00000476745.1:p.Ile93Val
ENST00000497424.5:c.712A>G	ENSP00000417609.1:p.Ile238Val
ENST00000610179.5:c.1216A>G	ENSP00000477429.1:p.Ile406Val
ENST00000610179.6:c.1255A>G	ENSP00000477429.2:p.Ile419Val
ENST00000621507.1:c.712A>G	ENSP00000481523.1:p.Ile238Val
ENST00000643504.2:c.*885A>G	ENSP00000495157.2:n.*885A>G
ENST00000646394.1:c.1082A>G
XM_005260835.2:c.970A>G	XP_005260892.1:p.Ile324Val
XM_005260835.3:c.970A>G	XP_005260892.1:p.Ile324Val
XM_005260836.3:c.712A>G	XP_005260893.3:p.Ile238Val
XM_005260836.4:c.712A>G	XP_005260893.3:p.Ile238Val
XM_006723631.1:c.712A>G	XP_006723694.1:p.Ile238Val
XM_011529364.1:c.1408A>G	XP_011527666.1:p.Ile470Val
XM_011529364.3:c.1408A>G	XP_011527666.1:p.Ile470Val
XM_017028077.2:c.277A>G	XP_016883566.1:p.Ile93Val
XM_017028078.2:c.277A>G	XP_016883567.1:p.Ile93Val
XM_017028079.2:c.277A>G	XP_016883568.1:p.Ile93Val
XM_024452002.1:c.277A>G	XP_024307770.1:p.Ile93Val
XR_002958533.1:n.2373A>G