Canonical Allele Identifier: CA368182361

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503196C>T , CM000669.2:g.92503196C>T	GRCh38
NC_000007.13:g.92132510C>T , CM000669.1:g.92132510C>T	GRCh37
NC_000007.12:g.91970446C>T	NCBI36
NG_008341.1:g.30336G>A
NG_008341.2:g.30336G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.2072-1G>A MANE Select	NP_000457.1:n.2072-1G>A
ENST00000248633.9:c.2072-1G>A MANE Select	ENSP00000248633.4:n.2072-1G>A
NM_000466.2:c.2072-1G>A	NP_000457.1:n.2072-1G>A
NM_001282677.1:c.1901-1G>A	NP_001269606.1:n.1901-1G>A
NM_001282677.2:c.1901-1G>A	NP_001269606.1:n.1901-1G>A
NM_001282678.1:c.1448-1G>A	NP_001269607.1:n.1448-1G>A
NM_001282678.2:c.1448-1G>A	NP_001269607.1:n.1448-1G>A
ENST00000248633.8:c.2072-1G>A	ENSP00000248633.4:n.2072-1G>A
ENST00000428214.5:c.1901-1G>A	ENSP00000394413.1:n.1901-1G>A
ENST00000438045.5:c.1106-1G>A	ENSP00000410438.1:n.1106-1G>A
ENST00000484913.5:n.2111-1G>A
ENST00000496420.5:n.1748-1G>A
XM_005250433.3:c.323-1G>A	XP_005250490.1:n.323-1G>A
XM_017012319.2:c.323-1G>A	XP_016867808.1:n.323-1G>A
XR_001744808.2:n.1099-1G>A
XR_242246.3:n.2168-1G>A
XR_242246.5:n.2119-1G>A