Canonical Allele Identifier: CA16041162

Gene: PEX1

Linked Data

• ClinVar Variation Id: 371727
• ClinVar RCV Id: RCV000410364 ; RCV000411848 ; RCV002523887 ; RCV003475985
• dbSNP Id: rs1057517490
• MyVariant Identifiers: chr7:g.92138642C>A (hg19) ; chr7:g.92509328C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92509328C>A , CM000669.2:g.92509328C>A	GRCh38
NC_000007.13:g.92138642C>A , CM000669.1:g.92138642C>A	GRCh37
NC_000007.12:g.91976578C>A	NCBI36
NG_008341.1:g.24204G>T
NG_008341.2:g.24204G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1670+1G>T MANE Select	ENSP00000248633.4:n.1670+1G>T
ENST00000248633.8:c.1670+1G>T	ENSP00000248633.4:n.1670+1G>T
ENST00000422866.1:c.488+1616G>T
ENST00000428214.5:c.1670+1G>T	ENSP00000394413.1:n.1670+1G>T
ENST00000438045.5:c.704+1G>T	ENSP00000410438.1:n.704+1G>T
ENST00000484913.5:n.1709+1G>T
NM_000466.2:c.1670+1G>T	NP_000457.1:n.1670+1G>T
NM_001282677.1:c.1670+1G>T	NP_001269606.1:n.1670+1G>T
NM_001282678.1:c.1046+1G>T	NP_001269607.1:n.1046+1G>T
XM_005250433.3:c.-80+1616G>T	XP_005250490.1:n.-80+1616G>T
XR_242246.3:n.1766+1G>T
XM_017012319.2:c.-80+1616G>T	XP_016867808.1:n.-80+1616G>T
XR_001744808.2:n.697+1616G>T
XR_242246.5:n.1717+1G>T
NM_000466.3:c.1670+1G>T MANE Select	NP_000457.1:n.1670+1G>T
NM_001282677.2:c.1670+1G>T	NP_001269606.1:n.1670+1G>T
NM_001282678.2:c.1046+1G>T	NP_001269607.1:n.1046+1G>T