Canonical Allele Identifier: CA368173067

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2813738
• ClinVar RCV Id: RCV003760858
• MyVariant Identifiers: chr7:g.92129017C>T (hg19) ; chr7:g.92499703C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499703C>T , CM000669.2:g.92499703C>T	GRCh38
NC_000007.13:g.92129017C>T , CM000669.1:g.92129017C>T	GRCh37
NC_000007.12:g.91966953C>T	NCBI36
NG_008341.1:g.33829G>A
NG_008341.2:g.33829G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2718+1G>A MANE Select	ENSP00000248633.4:n.2718+1G>A
ENST00000248633.8:c.2718+1G>A	ENSP00000248633.4:n.2718+1G>A
ENST00000428214.5:c.2547+1G>A	ENSP00000394413.1:n.2547+1G>A
ENST00000438045.5:c.1752+1G>A	ENSP00000410438.1:n.1752+1G>A
ENST00000484913.5:n.2757+1G>A
ENST00000496420.5:n.2610+1G>A
NM_000466.2:c.2718+1G>A	NP_000457.1:n.2718+1G>A
NM_001282677.1:c.2547+1G>A	NP_001269606.1:n.2547+1G>A
NM_001282678.1:c.2094+1G>A	NP_001269607.1:n.2094+1G>A
XM_005250433.3:c.969+1G>A	XP_005250490.1:n.969+1G>A
XR_242246.3:n.2814+1G>A
XM_017012319.2:c.969+1G>A	XP_016867808.1:n.969+1G>A
XR_001744808.2:n.1745+1G>A
XR_242246.5:n.2765+1G>A
NM_000466.3:c.2718+1G>A MANE Select	NP_000457.1:n.2718+1G>A
NM_001282677.2:c.2547+1G>A	NP_001269606.1:n.2547+1G>A
NM_001282678.2:c.2094+1G>A	NP_001269607.1:n.2094+1G>A