Canonical Allele Identifier: CA368183269

Gene: PEX1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504782G>T , CM000669.2:g.92504782G>T	GRCh38
NC_000007.13:g.92134096G>T , CM000669.1:g.92134096G>T	GRCh37
NC_000007.12:g.91972032G>T	NCBI36
NG_008341.1:g.28750C>A
NG_008341.2:g.28750C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2021C>A MANE Select	ENSP00000248633.4:p.Pro674Gln
ENST00000248633.8:c.2021C>A	ENSP00000248633.4:p.Pro674Gln
ENST00000428214.5:c.1900+1466C>A	ENSP00000394413.1:n.1900+1466C>A
ENST00000438045.5:c.1055C>A	ENSP00000410438.1:p.Pro352Gln
ENST00000484913.5:n.2060C>A
ENST00000496420.5:n.1697C>A
NM_000466.2:c.2021C>A	NP_000457.1:p.Pro674Gln
NM_001282677.1:c.1900+1466C>A	NP_001269606.1:n.1900+1466C>A
NM_001282678.1:c.1397C>A	NP_001269607.1:p.Pro466Gln
XM_005250433.3:c.272C>A	XP_005250490.1:p.Pro91Gln
XR_242246.3:n.2117C>A
XM_017012319.2:c.272C>A	XP_016867808.1:p.Pro91Gln
XR_001744808.2:n.1048C>A
XR_242246.5:n.2068C>A
NM_000466.3:c.2021C>A MANE Select	NP_000457.1:p.Pro674Gln
NM_001282677.2:c.1900+1466C>A	NP_001269606.1:n.1900+1466C>A
NM_001282678.2:c.1397C>A	NP_001269607.1:p.Pro466Gln