Canonical Allele Identifier: CA456483171

Gene: PEX1

Linked Data

• dbSNP Id: rs1338734513
• gnomAD v4: 7-92503092-A-G
• MyVariant Identifiers: chr7:g.92132406A>G (hg19) ; chr7:g.92503092A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503092A>G , CM000669.2:g.92503092A>G	GRCh38
NC_000007.13:g.92132406A>G , CM000669.1:g.92132406A>G	GRCh37
NC_000007.12:g.91970342A>G	NCBI36
NG_008341.1:g.30440T>C
NG_008341.2:g.30440T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2175T>C MANE Select	ENSP00000248633.4:p.Ala725=
ENST00000248633.8:c.2175T>C	ENSP00000248633.4:p.Ala725=
ENST00000428214.5:c.2004T>C	ENSP00000394413.1:p.Ala668=
ENST00000438045.5:c.1209T>C	ENSP00000410438.1:p.Ala403=
ENST00000484913.5:n.2214T>C
ENST00000496420.5:n.1851T>C
NM_000466.2:c.2175T>C	NP_000457.1:p.Ala725=
NM_001282677.1:c.2004T>C	NP_001269606.1:p.Ala668=
NM_001282678.1:c.1551T>C	NP_001269607.1:p.Ala517=
XM_005250433.3:c.426T>C	XP_005250490.1:p.Ala142=
XR_242246.3:n.2271T>C
XM_017012319.2:c.426T>C	XP_016867808.1:p.Ala142=
XR_001744808.2:n.1202T>C
XR_242246.5:n.2222T>C
NM_000466.3:c.2175T>C MANE Select	NP_000457.1:p.Ala725=
NM_001282677.2:c.2004T>C	NP_001269606.1:p.Ala668=
NM_001282678.2:c.1551T>C	NP_001269607.1:p.Ala517=