Canonical Allele Identifier: CA368176838

Gene: PEX1

Linked Data

• dbSNP Id: rs1296693435
• gnomAD v2: 7-92131207-C-T
• gnomAD v4: 7-92501893-C-T
• MyVariant Identifiers: chr7:g.92131207C>T (hg19) ; chr7:g.92501893C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501893C>T , CM000669.2:g.92501893C>T	GRCh38
NC_000007.13:g.92131207C>T , CM000669.1:g.92131207C>T	GRCh37
NC_000007.12:g.91969143C>T	NCBI36
NG_008341.1:g.31639G>A
NG_008341.2:g.31639G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2413G>A MANE Select	ENSP00000248633.4:p.Glu805Lys
ENST00000248633.8:c.2413G>A	ENSP00000248633.4:p.Glu805Lys
ENST00000428214.5:c.2242G>A	ENSP00000394413.1:p.Glu748Lys
ENST00000438045.5:c.1447G>A	ENSP00000410438.1:p.Glu483Lys
ENST00000484913.5:n.2452G>A
ENST00000496092.1:n.211G>A
ENST00000496420.5:n.2089G>A
NM_000466.2:c.2413G>A	NP_000457.1:p.Glu805Lys
NM_001282677.1:c.2242G>A	NP_001269606.1:p.Glu748Lys
NM_001282678.1:c.1789G>A	NP_001269607.1:p.Glu597Lys
XM_005250433.3:c.664G>A	XP_005250490.1:p.Glu222Lys
XR_242246.3:n.2509G>A
XM_017012319.2:c.664G>A	XP_016867808.1:p.Glu222Lys
XR_001744808.2:n.1440G>A
XR_242246.5:n.2460G>A
NM_000466.3:c.2413G>A MANE Select	NP_000457.1:p.Glu805Lys
NM_001282677.2:c.2242G>A	NP_001269606.1:p.Glu748Lys
NM_001282678.2:c.1789G>A	NP_001269607.1:p.Glu597Lys