Canonical Allele Identifier: CA4341299

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2972609
• ClinVar RCV Id: RCV003837719
• dbSNP Id: rs771043177
• ExAC: 7:92136288 A / C
• gnomAD v2: 7-92136288-A-C
• gnomAD v4: 7-92506974-A-C
• MyVariant Identifiers: chr7:g.92136288A>C (hg19) ; chr7:g.92506974A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506974A>C , CM000669.2:g.92506974A>C	GRCh38
NC_000007.13:g.92136288A>C , CM000669.1:g.92136288A>C	GRCh37
NC_000007.12:g.91974224A>C	NCBI36
NG_008341.1:g.26558T>G
NG_008341.2:g.26558T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1803+20T>G MANE Select	ENSP00000248633.4:n.1803+20T>G
ENST00000248633.8:c.1803+20T>G	ENSP00000248633.4:n.1803+20T>G
ENST00000422866.1:c.621+20T>G
ENST00000428214.5:c.1803+20T>G	ENSP00000394413.1:n.1803+20T>G
ENST00000438045.5:c.837+20T>G	ENSP00000410438.1:n.837+20T>G
ENST00000484913.5:n.1842+20T>G
ENST00000496420.5:n.850T>G
NM_000466.2:c.1803+20T>G	NP_000457.1:n.1803+20T>G
NM_001282677.1:c.1803+20T>G	NP_001269606.1:n.1803+20T>G
NM_001282678.1:c.1179+20T>G	NP_001269607.1:n.1179+20T>G
XM_005250433.3:c.54+20T>G	XP_005250490.1:n.54+20T>G
XR_242246.3:n.1899+20T>G
XM_017012319.2:c.54+20T>G	XP_016867808.1:n.54+20T>G
XR_001744808.2:n.830+20T>G
XR_242246.5:n.1850+20T>G
NM_000466.3:c.1803+20T>G MANE Select	NP_000457.1:n.1803+20T>G
NM_001282677.2:c.1803+20T>G	NP_001269606.1:n.1803+20T>G
NM_001282678.2:c.1179+20T>G	NP_001269607.1:n.1179+20T>G