Canonical Allele Identifier: CA368182756

Gene: PEX1

Linked Data

• dbSNP Id: rs1234699917
• gnomAD v2: 7-92134051-G-A
• gnomAD v4: 7-92504737-G-A
• MyVariant Identifiers: chr7:g.92134051G>A (hg19) ; chr7:g.92504737G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504737G>A , CM000669.2:g.92504737G>A	GRCh38
NC_000007.13:g.92134051G>A , CM000669.1:g.92134051G>A	GRCh37
NC_000007.12:g.91971987G>A	NCBI36
NG_008341.1:g.28795C>T
NG_008341.2:g.28795C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2066C>T MANE Select	ENSP00000248633.4:p.Ala689Val
ENST00000248633.8:c.2066C>T	ENSP00000248633.4:p.Ala689Val
ENST00000428214.5:c.1900+1511C>T	ENSP00000394413.1:n.1900+1511C>T
ENST00000438045.5:c.1100C>T	ENSP00000410438.1:p.Ala367Val
ENST00000484913.5:n.2105C>T
ENST00000496420.5:n.1742C>T
NM_000466.2:c.2066C>T	NP_000457.1:p.Ala689Val
NM_001282677.1:c.1900+1511C>T	NP_001269606.1:n.1900+1511C>T
NM_001282678.1:c.1442C>T	NP_001269607.1:p.Ala481Val
XM_005250433.3:c.317C>T	XP_005250490.1:p.Ala106Val
XR_242246.3:n.2162C>T
XM_017012319.2:c.317C>T	XP_016867808.1:p.Ala106Val
XR_001744808.2:n.1093C>T
XR_242246.5:n.2113C>T
NM_000466.3:c.2066C>T MANE Select	NP_000457.1:p.Ala689Val
NM_001282677.2:c.1900+1511C>T	NP_001269606.1:n.1900+1511C>T
NM_001282678.2:c.1442C>T	NP_001269607.1:p.Ala481Val