Canonical Allele Identifier: CA2683718287

Gene: PEX1

Linked Data

• gnomAD v4: 7-92502159-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502159G>A , CM000669.2:g.92502159G>A	GRCh38
NC_000007.13:g.92131473G>A , CM000669.1:g.92131473G>A	GRCh37
NC_000007.12:g.91969409G>A	NCBI36
NG_008341.1:g.31373C>T
NG_008341.2:g.31373C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-80C>T MANE Select	ENSP00000248633.4:n.2227-80C>T
ENST00000248633.8:c.2227-80C>T	ENSP00000248633.4:n.2227-80C>T
ENST00000428214.5:c.2056-80C>T	ENSP00000394413.1:n.2056-80C>T
ENST00000438045.5:c.1261-80C>T	ENSP00000410438.1:n.1261-80C>T
ENST00000484913.5:n.2266-80C>T
ENST00000496092.1:n.25-80C>T
ENST00000496420.5:n.1903-80C>T
NM_000466.2:c.2227-80C>T	NP_000457.1:n.2227-80C>T
NM_001282677.1:c.2056-80C>T	NP_001269606.1:n.2056-80C>T
NM_001282678.1:c.1603-80C>T	NP_001269607.1:n.1603-80C>T
XM_005250433.3:c.478-80C>T	XP_005250490.1:n.478-80C>T
XR_242246.3:n.2323-80C>T
XM_017012319.2:c.478-80C>T	XP_016867808.1:n.478-80C>T
XR_001744808.2:n.1254-80C>T
XR_242246.5:n.2274-80C>T
NM_000466.3:c.2227-80C>T MANE Select	NP_000457.1:n.2227-80C>T
NM_001282677.2:c.2056-80C>T	NP_001269606.1:n.2056-80C>T
NM_001282678.2:c.1603-80C>T	NP_001269607.1:n.1603-80C>T