Canonical Allele Identifier: CA10626588

Gene: PEX1

Linked Data

• ClinVar Variation Id: 360932
• ClinVar RCV Id: RCV000306024 ; RCV002058680
• dbSNP Id: rs886062508
• gnomAD v2: 7-92157611-G-A
• gnomAD v3: 7-92528297-G-A
• gnomAD v4: 7-92528297-G-A
• MyVariant Identifiers: chr7:g.92157611G>A (hg19) ; chr7:g.92528297G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92528297G>A , CM000669.2:g.92528297G>A	GRCh38
NC_000007.13:g.92157611G>A , CM000669.1:g.92157611G>A	GRCh37
NC_000007.12:g.91995547G>A	NCBI36
NG_008341.1:g.5235C>T
NG_008341.2:g.5235C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.129+10C>T MANE Select	ENSP00000248633.4:n.129+10C>T
ENST00000248633.8:c.129+10C>T	ENSP00000248633.4:n.129+10C>T
ENST00000428214.5:c.129+10C>T	ENSP00000394413.1:n.129+10C>T
ENST00000438045.5:c.129+10C>T	ENSP00000410438.1:n.129+10C>T
ENST00000484913.5:n.133+10C>T
NM_000466.2:c.129+10C>T	NP_000457.1:n.129+10C>T
NM_001282677.1:c.129+10C>T	NP_001269606.1:n.129+10C>T
NM_001282678.1:c.-531+10C>T	NP_001269607.1:n.-531+10C>T
XR_242246.3:n.225+10C>T
XR_242246.5:n.176+10C>T
NM_000466.3:c.129+10C>T MANE Select	NP_000457.1:n.129+10C>T
NM_001282677.2:c.129+10C>T	NP_001269606.1:n.129+10C>T
NM_001282678.2:c.-531+10C>T	NP_001269607.1:n.-531+10C>T