Canonical Allele Identifier: CA368177268

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2134248
• ClinVar RCV Id: RCV003065834
• dbSNP Id: rs1476014977
• gnomAD v2: 7-92131243-G-A
• gnomAD v4: 7-92501929-G-A
• MyVariant Identifiers: chr7:g.92131243G>A (hg19) ; chr7:g.92501929G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501929G>A , CM000669.2:g.92501929G>A	GRCh38
NC_000007.13:g.92131243G>A , CM000669.1:g.92131243G>A	GRCh37
NC_000007.12:g.91969179G>A	NCBI36
NG_008341.1:g.31603C>T
NG_008341.2:g.31603C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2377C>T MANE Select	ENSP00000248633.4:p.His793Tyr
ENST00000248633.8:c.2377C>T	ENSP00000248633.4:p.His793Tyr
ENST00000428214.5:c.2206C>T	ENSP00000394413.1:p.His736Tyr
ENST00000438045.5:c.1411C>T	ENSP00000410438.1:p.His471Tyr
ENST00000484913.5:n.2416C>T
ENST00000496092.1:n.175C>T
ENST00000496420.5:n.2053C>T
NM_000466.2:c.2377C>T	NP_000457.1:p.His793Tyr
NM_001282677.1:c.2206C>T	NP_001269606.1:p.His736Tyr
NM_001282678.1:c.1753C>T	NP_001269607.1:p.His585Tyr
XM_005250433.3:c.628C>T	XP_005250490.1:p.His210Tyr
XR_242246.3:n.2473C>T
XM_017012319.2:c.628C>T	XP_016867808.1:p.His210Tyr
XR_001744808.2:n.1404C>T
XR_242246.5:n.2424C>T
NM_000466.3:c.2377C>T MANE Select	NP_000457.1:p.His793Tyr
NM_001282677.2:c.2206C>T	NP_001269606.1:p.His736Tyr
NM_001282678.2:c.1753C>T	NP_001269607.1:p.His585Tyr