Canonical Allele Identifier: CA1104488116

Gene: PEX1

Linked Data

• dbSNP Id: rs1171639703
• gnomAD v3: 7-92494741-C-A
• gnomAD v4: 7-92494741-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494741C>A , CM000669.2:g.92494741C>A	GRCh38
NC_000007.13:g.92124055C>A , CM000669.1:g.92124055C>A	GRCh37
NC_000007.12:g.91961991C>A	NCBI36
NG_008341.1:g.38791G>T
NG_008341.2:g.38791G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-112G>T MANE Select	ENSP00000248633.4:n.2784-112G>T
ENST00000248633.8:c.2784-112G>T	ENSP00000248633.4:n.2784-112G>T
ENST00000428214.5:c.2613-112G>T	ENSP00000394413.1:n.2613-112G>T
ENST00000438045.5:c.1818-112G>T	ENSP00000410438.1:n.1818-112G>T
ENST00000484913.5:n.2823-112G>T
ENST00000496420.5:n.2676-112G>T
NM_000466.2:c.2784-112G>T	NP_000457.1:n.2784-112G>T
NM_001282677.1:c.2613-112G>T	NP_001269606.1:n.2613-112G>T
NM_001282678.1:c.2160-112G>T	NP_001269607.1:n.2160-112G>T
XM_005250433.3:c.1035-112G>T	XP_005250490.1:n.1035-112G>T
XR_242246.3:n.2880-112G>T
XM_017012319.2:c.1035-112G>T	XP_016867808.1:n.1035-112G>T
XR_001744808.2:n.1811-112G>T
XR_242246.5:n.2831-112G>T
NM_000466.3:c.2784-112G>T MANE Select	NP_000457.1:n.2784-112G>T
NM_001282677.2:c.2613-112G>T	NP_001269606.1:n.2613-112G>T
NM_001282678.2:c.2160-112G>T	NP_001269607.1:n.2160-112G>T