Canonical Allele Identifier: CA2683719746

Gene: PEX1

Linked Data

• gnomAD v4: 7-92517158-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517158G>A , CM000669.2:g.92517158G>A	GRCh38
NC_000007.13:g.92146472G>A , CM000669.1:g.92146472G>A	GRCh37
NC_000007.12:g.91984408G>A	NCBI36
NG_008341.1:g.16374C>T
NG_008341.2:g.16374C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1239+118C>T MANE Select	ENSP00000248633.4:n.1239+118C>T
ENST00000248633.8:c.1239+118C>T	ENSP00000248633.4:n.1239+118C>T
ENST00000422866.1:c.140+118C>T
ENST00000428214.5:c.1239+118C>T	ENSP00000394413.1:n.1239+118C>T
ENST00000438045.5:c.274-3191C>T	ENSP00000410438.1:n.274-3191C>T
ENST00000484913.5:n.1278+118C>T
NM_000466.2:c.1239+118C>T	NP_000457.1:n.1239+118C>T
NM_001282677.1:c.1239+118C>T	NP_001269606.1:n.1239+118C>T
NM_001282678.1:c.615+118C>T	NP_001269607.1:n.615+118C>T
XR_242246.3:n.1335+118C>T
XM_017012319.2:c.-428+118C>T	XP_016867808.1:n.-428+118C>T
XR_001744808.2:n.349+118C>T
XR_242246.5:n.1286+118C>T
NM_000466.3:c.1239+118C>T MANE Select	NP_000457.1:n.1239+118C>T
NM_001282677.2:c.1239+118C>T	NP_001269606.1:n.1239+118C>T
NM_001282678.2:c.615+118C>T	NP_001269607.1:n.615+118C>T