Canonical Allele Identifier: CA4341192

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1132228
• ClinVar RCV Id: RCV001466400
• dbSNP Id: rs371347250
• ExAC: 7:92132348 G / T
• gnomAD v2: 7-92132348-G-T
• gnomAD v4: 7-92503034-G-T
• MyVariant Identifiers: chr7:g.92132348G>T (hg19) ; chr7:g.92503034G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503034G>T , CM000669.2:g.92503034G>T	GRCh38
NC_000007.13:g.92132348G>T , CM000669.1:g.92132348G>T	GRCh37
NC_000007.12:g.91970284G>T	NCBI36
NG_008341.1:g.30498C>A
NG_008341.2:g.30498C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2226+7C>A MANE Select	ENSP00000248633.4:n.2226+7C>A
ENST00000248633.8:c.2226+7C>A	ENSP00000248633.4:n.2226+7C>A
ENST00000428214.5:c.2055+7C>A	ENSP00000394413.1:n.2055+7C>A
ENST00000438045.5:c.1260+7C>A	ENSP00000410438.1:n.1260+7C>A
ENST00000484913.5:n.2265+7C>A
ENST00000496092.1:n.24+7C>A
ENST00000496420.5:n.1902+7C>A
NM_000466.2:c.2226+7C>A	NP_000457.1:n.2226+7C>A
NM_001282677.1:c.2055+7C>A	NP_001269606.1:n.2055+7C>A
NM_001282678.1:c.1602+7C>A	NP_001269607.1:n.1602+7C>A
XM_005250433.3:c.477+7C>A	XP_005250490.1:n.477+7C>A
XR_242246.3:n.2322+7C>A
XM_017012319.2:c.477+7C>A	XP_016867808.1:n.477+7C>A
XR_001744808.2:n.1253+7C>A
XR_242246.5:n.2273+7C>A
NM_000466.3:c.2226+7C>A MANE Select	NP_000457.1:n.2226+7C>A
NM_001282677.2:c.2055+7C>A	NP_001269606.1:n.2055+7C>A
NM_001282678.2:c.1602+7C>A	NP_001269607.1:n.1602+7C>A