Canonical Allele Identifier: CA368207294

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92528306C>T , CM000669.2:g.92528306C>T	GRCh38
NC_000007.13:g.92157620C>T , CM000669.1:g.92157620C>T	GRCh37
NC_000007.12:g.91995556C>T	NCBI36
NG_008341.1:g.5226G>A
NG_008341.2:g.5226G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.129+1G>A MANE Select	NP_000457.1:n.129+1G>A
ENST00000248633.9:c.129+1G>A MANE Select	ENSP00000248633.4:n.129+1G>A
NM_000466.2:c.129+1G>A	NP_000457.1:n.129+1G>A
NM_001282677.1:c.129+1G>A	NP_001269606.1:n.129+1G>A
NM_001282677.2:c.129+1G>A	NP_001269606.1:n.129+1G>A
NM_001282678.1:c.-531+1G>A	NP_001269607.1:n.-531+1G>A
NM_001282678.2:c.-531+1G>A	NP_001269607.1:n.-531+1G>A
ENST00000248633.8:c.129+1G>A	ENSP00000248633.4:n.129+1G>A
ENST00000428214.5:c.129+1G>A	ENSP00000394413.1:n.129+1G>A
ENST00000438045.5:c.129+1G>A	ENSP00000410438.1:n.129+1G>A
ENST00000484913.5:n.133+1G>A
XR_242246.3:n.225+1G>A
XR_242246.5:n.176+1G>A