Canonical Allele Identifier: CA161960369

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2072678
• ClinVar RCV Id: RCV002967285
• dbSNP Id: rs1003716485
• gnomAD v2: 7-92131284-A-G
• gnomAD v3: 7-92501970-A-G
• gnomAD v4: 7-92501970-A-G
• MyVariant Identifiers: chr7:g.92131284A>G (hg19) ; chr7:g.92501970A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501970A>G , CM000669.2:g.92501970A>G	GRCh38
NC_000007.13:g.92131284A>G , CM000669.1:g.92131284A>G	GRCh37
NC_000007.12:g.91969220A>G	NCBI36
NG_008341.1:g.31562T>C
NG_008341.2:g.31562T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2336T>C MANE Select	ENSP00000248633.4:p.Phe779Ser
ENST00000248633.8:c.2336T>C	ENSP00000248633.4:p.Phe779Ser
ENST00000428214.5:c.2165T>C	ENSP00000394413.1:p.Phe722Ser
ENST00000438045.5:c.1370T>C	ENSP00000410438.1:p.Phe457Ser
ENST00000484913.5:n.2375T>C
ENST00000496092.1:n.134T>C
ENST00000496420.5:n.2012T>C
NM_000466.2:c.2336T>C	NP_000457.1:p.Phe779Ser
NM_001282677.1:c.2165T>C	NP_001269606.1:p.Phe722Ser
NM_001282678.1:c.1712T>C	NP_001269607.1:p.Phe571Ser
XM_005250433.3:c.587T>C	XP_005250490.1:p.Phe196Ser
XR_242246.3:n.2432T>C
XM_017012319.2:c.587T>C	XP_016867808.1:p.Phe196Ser
XR_001744808.2:n.1363T>C
XR_242246.5:n.2383T>C
NM_000466.3:c.2336T>C MANE Select	NP_000457.1:p.Phe779Ser
NM_001282677.2:c.2165T>C	NP_001269606.1:p.Phe722Ser
NM_001282678.2:c.1712T>C	NP_001269607.1:p.Phe571Ser