Canonical Allele Identifier: CA5595749

Gene: PANK1

Linked Data

• dbSNP Id: rs2296616
• ExAC: 10:91352966 G / A
• gnomAD v2: 10-91352966-G-A
• gnomAD v3: 10-89593209-G-A
• gnomAD v4: 10-89593209-G-A
• MyVariant Identifiers: chr10:g.91352966G>A (hg19) ; chr10:g.89593209G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89593209G>A , CM000672.2:g.89593209G>A	GRCh38
NC_000010.10:g.91352966G>A , CM000672.1:g.91352966G>A	GRCh37
NC_000010.9:g.91342946G>A	NCBI36
NG_029474.1:g.57364C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342512.4:c.924C>T	ENSP00000345118.3:p.Cys308=
ENST00000307534.10:c.1188C>T MANE Select	ENSP00000302108.5:p.Cys396=
ENST00000307534.8:c.1599C>T	ENSP00000302108.4:p.Cys533=
ENST00000322191.10:c.747C>T	ENSP00000318526.6:p.Cys249=
ENST00000342512.3:c.924C>T	ENSP00000345118.3:p.Cys308=
NM_138316.3:c.747C>T	NP_612189.2:p.Cys249=
NM_148977.2:c.1599C>T	NP_683878.1:p.Cys533=
NM_148978.2:c.924C>T	NP_683879.1:p.Cys308=
XM_005269902.2:c.1422C>T	XP_005269959.1:p.Cys474=
XM_017016333.2:c.1005C>T	XP_016871822.1:p.Cys335=
XM_017016334.1:c.969C>T	XP_016871823.1:p.Cys323=
XM_017016335.1:c.918C>T	XP_016871824.1:p.Cys306=
XM_017016336.1:c.912C>T	XP_016871825.1:p.Cys304=
XM_017016337.1:c.879C>T	XP_016871826.1:p.Cys293=
XM_017016338.1:c.216C>T	XP_016871827.1:p.Cys72=
XM_024448040.1:c.918C>T	XP_024303808.1:p.Cys306=
XM_024448041.1:c.918C>T	XP_024303809.1:p.Cys306=
NM_138316.4:c.747C>T	NP_612189.2:p.Cys249=
NM_148978.3:c.924C>T	NP_683879.1:p.Cys308=
NM_148977.3:c.1188C>T MANE Select	NP_683878.2:p.Cys396=