Canonical Allele Identifier: CA368200179

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2158059
• ClinVar RCV Id: RCV003069568
• dbSNP Id: rs1792867080
• gnomAD v4: 7-92517773-T-G
• MyVariant Identifiers: chr7:g.92147087T>G (hg19) ; chr7:g.92517773T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517773T>G , CM000669.2:g.92517773T>G	GRCh38
NC_000007.13:g.92147087T>G , CM000669.1:g.92147087T>G	GRCh37
NC_000007.12:g.91985023T>G	NCBI36
NG_008341.1:g.15759A>C
NG_008341.2:g.15759A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.742A>C MANE Select	ENSP00000248633.4:p.Met248Leu
ENST00000248633.8:c.742A>C	ENSP00000248633.4:p.Met248Leu
ENST00000428214.5:c.742A>C	ENSP00000394413.1:p.Met248Leu
ENST00000438045.5:c.274-3806A>C	ENSP00000410438.1:n.274-3806A>C
ENST00000484913.5:n.781A>C
NM_000466.2:c.742A>C	NP_000457.1:p.Met248Leu
NM_001282677.1:c.742A>C	NP_001269606.1:p.Met248Leu
NM_001282678.1:c.118A>C	NP_001269607.1:p.Met40Leu
XR_242246.3:n.838A>C
XR_242246.5:n.789A>C
NM_000466.3:c.742A>C MANE Select	NP_000457.1:p.Met248Leu
NM_001282677.2:c.742A>C	NP_001269606.1:p.Met248Leu
NM_001282678.2:c.118A>C	NP_001269607.1:p.Met40Leu