Canonical Allele Identifier: CA368182220

Gene: PEX1

Linked Data

• dbSNP Id: rs1327988631
• gnomAD v2: 7-92132498-T-C
• gnomAD v4: 7-92503184-T-C
• MyVariant Identifiers: chr7:g.92132498T>C (hg19) ; chr7:g.92503184T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503184T>C , CM000669.2:g.92503184T>C	GRCh38
NC_000007.13:g.92132498T>C , CM000669.1:g.92132498T>C	GRCh37
NC_000007.12:g.91970434T>C	NCBI36
NG_008341.1:g.30348A>G
NG_008341.2:g.30348A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2083A>G MANE Select	ENSP00000248633.4:p.Met695Val
ENST00000248633.8:c.2083A>G	ENSP00000248633.4:p.Met695Val
ENST00000428214.5:c.1912A>G	ENSP00000394413.1:p.Met638Val
ENST00000438045.5:c.1117A>G	ENSP00000410438.1:p.Met373Val
ENST00000484913.5:n.2122A>G
ENST00000496420.5:n.1759A>G
NM_000466.2:c.2083A>G	NP_000457.1:p.Met695Val
NM_001282677.1:c.1912A>G	NP_001269606.1:p.Met638Val
NM_001282678.1:c.1459A>G	NP_001269607.1:p.Met487Val
XM_005250433.3:c.334A>G	XP_005250490.1:p.Met112Val
XR_242246.3:n.2179A>G
XM_017012319.2:c.334A>G	XP_016867808.1:p.Met112Val
XR_001744808.2:n.1110A>G
XR_242246.5:n.2130A>G
NM_000466.3:c.2083A>G MANE Select	NP_000457.1:p.Met695Val
NM_001282677.2:c.1912A>G	NP_001269606.1:p.Met638Val
NM_001282678.2:c.1459A>G	NP_001269607.1:p.Met487Val