Canonical Allele Identifier: CA368176775

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2852274
• ClinVar RCV Id: RCV003758640
• MyVariant Identifiers: chr7:g.92131203C>T (hg19) ; chr7:g.92501889C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501889C>T , CM000669.2:g.92501889C>T	GRCh38
NC_000007.13:g.92131203C>T , CM000669.1:g.92131203C>T	GRCh37
NC_000007.12:g.91969139C>T	NCBI36
NG_008341.1:g.31643G>A
NG_008341.2:g.31643G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2416+1G>A MANE Select	ENSP00000248633.4:n.2416+1G>A
ENST00000248633.8:c.2416+1G>A	ENSP00000248633.4:n.2416+1G>A
ENST00000428214.5:c.2245+1G>A	ENSP00000394413.1:n.2245+1G>A
ENST00000438045.5:c.1450+1G>A	ENSP00000410438.1:n.1450+1G>A
ENST00000484913.5:n.2455+1G>A
ENST00000496092.1:n.215G>A
ENST00000496420.5:n.2093G>A
NM_000466.2:c.2416+1G>A	NP_000457.1:n.2416+1G>A
NM_001282677.1:c.2245+1G>A	NP_001269606.1:n.2245+1G>A
NM_001282678.1:c.1792+1G>A	NP_001269607.1:n.1792+1G>A
XM_005250433.3:c.667+1G>A	XP_005250490.1:n.667+1G>A
XR_242246.3:n.2512+1G>A
XM_017012319.2:c.667+1G>A	XP_016867808.1:n.667+1G>A
XR_001744808.2:n.1443+1G>A
XR_242246.5:n.2463+1G>A
NM_000466.3:c.2416+1G>A MANE Select	NP_000457.1:n.2416+1G>A
NM_001282677.2:c.2245+1G>A	NP_001269606.1:n.2245+1G>A
NM_001282678.2:c.1792+1G>A	NP_001269607.1:n.1792+1G>A