Canonical Allele Identifier: CA1725944821

Gene: PEX1

Linked Data

• dbSNP Id: rs1792340026

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92509251T>A , CM000669.2:g.92509251T>A	GRCh38
NC_000007.13:g.92138565T>A , CM000669.1:g.92138565T>A	GRCh37
NC_000007.12:g.91976501T>A	NCBI36
NG_008341.1:g.24281A>T
NG_008341.2:g.24281A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1670+78A>T MANE Select	ENSP00000248633.4:n.1670+78A>T
ENST00000248633.8:c.1670+78A>T	ENSP00000248633.4:n.1670+78A>T
ENST00000422866.1:c.488+1693A>T
ENST00000428214.5:c.1670+78A>T	ENSP00000394413.1:n.1670+78A>T
ENST00000438045.5:c.704+78A>T	ENSP00000410438.1:n.704+78A>T
ENST00000484913.5:n.1709+78A>T
NM_000466.2:c.1670+78A>T	NP_000457.1:n.1670+78A>T
NM_001282677.1:c.1670+78A>T	NP_001269606.1:n.1670+78A>T
NM_001282678.1:c.1046+78A>T	NP_001269607.1:n.1046+78A>T
XM_005250433.3:c.-80+1693A>T	XP_005250490.1:n.-80+1693A>T
XR_242246.3:n.1766+78A>T
XM_017012319.2:c.-80+1693A>T	XP_016867808.1:n.-80+1693A>T
XR_001744808.2:n.697+1693A>T
XR_242246.5:n.1717+78A>T
NM_000466.3:c.1670+78A>T MANE Select	NP_000457.1:n.1670+78A>T
NM_001282677.2:c.1670+78A>T	NP_001269606.1:n.1670+78A>T
NM_001282678.2:c.1046+78A>T	NP_001269607.1:n.1046+78A>T