Canonical Allele Identifier: CA1725937202

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1095236
• ClinVar RCV Id: RCV001416026
• dbSNP Id: rs1792019918
• gnomAD v4: 7-92503199-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503199G>A , CM000669.2:g.92503199G>A	GRCh38
NC_000007.13:g.92132513G>A , CM000669.1:g.92132513G>A	GRCh37
NC_000007.12:g.91970449G>A	NCBI36
NG_008341.1:g.30333C>T
NG_008341.2:g.30333C>T

Transcript Alleles

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