Canonical Allele Identifier: CA368202951

Gene: PEX1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519012C>T , CM000669.2:g.92519012C>T	GRCh38
NC_000007.13:g.92148326C>T , CM000669.1:g.92148326C>T	GRCh37
NC_000007.12:g.91986262C>T	NCBI36
NG_008341.1:g.14520G>A
NG_008341.2:g.14520G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.340G>A MANE Select	ENSP00000248633.4:p.Asp114Asn
ENST00000248633.8:c.340G>A	ENSP00000248633.4:p.Asp114Asn
ENST00000428214.5:c.340G>A	ENSP00000394413.1:p.Asp114Asn
ENST00000438045.5:c.273+3090G>A	ENSP00000410438.1:n.273+3090G>A
ENST00000484913.5:n.344G>A
NM_000466.2:c.340G>A	NP_000457.1:p.Asp114Asn
NM_001282677.1:c.340G>A	NP_001269606.1:p.Asp114Asn
NM_001282678.1:c.-320G>A	NP_001269607.1:n.-320G>A
XR_242246.3:n.436G>A
XR_242246.5:n.387G>A
NM_000466.3:c.340G>A MANE Select	NP_000457.1:p.Asp114Asn
NM_001282677.2:c.340G>A	NP_001269606.1:p.Asp114Asn
NM_001282678.2:c.-320G>A	NP_001269607.1:n.-320G>A