Canonical Allele Identifier: CA456482900

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1121390
• ClinVar RCV Id: RCV001451666
• dbSNP Id: rs1242105055
• gnomAD v2: 7-92131238-A-G
• gnomAD v4: 7-92501924-A-G
• MyVariant Identifiers: chr7:g.92131238A>G (hg19) ; chr7:g.92501924A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501924A>G , CM000669.2:g.92501924A>G	GRCh38
NC_000007.13:g.92131238A>G , CM000669.1:g.92131238A>G	GRCh37
NC_000007.12:g.91969174A>G	NCBI36
NG_008341.1:g.31608T>C
NG_008341.2:g.31608T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2382T>C MANE Select	ENSP00000248633.4:p.Ser794=
ENST00000248633.8:c.2382T>C	ENSP00000248633.4:p.Ser794=
ENST00000428214.5:c.2211T>C	ENSP00000394413.1:p.Ser737=
ENST00000438045.5:c.1416T>C	ENSP00000410438.1:p.Ser472=
ENST00000484913.5:n.2421T>C
ENST00000496092.1:n.180T>C
ENST00000496420.5:n.2058T>C
NM_000466.2:c.2382T>C	NP_000457.1:p.Ser794=
NM_001282677.1:c.2211T>C	NP_001269606.1:p.Ser737=
NM_001282678.1:c.1758T>C	NP_001269607.1:p.Ser586=
XM_005250433.3:c.633T>C	XP_005250490.1:p.Ser211=
XR_242246.3:n.2478T>C
XM_017012319.2:c.633T>C	XP_016867808.1:p.Ser211=
XR_001744808.2:n.1409T>C
XR_242246.5:n.2429T>C
NM_000466.3:c.2382T>C MANE Select	NP_000457.1:p.Ser794=
NM_001282677.2:c.2211T>C	NP_001269606.1:p.Ser737=
NM_001282678.2:c.1758T>C	NP_001269607.1:p.Ser586=