Canonical Allele Identifier: CA220975

Gene: PEX1

Linked Data

• ClinVar Variation Id: 93104
• ClinVar RCV Id: RCV000078919 ; RCV000672527 ; RCV001854392 ; RCV003474678
• dbSNP Id: rs398123409
• gnomAD v2: 7-92131390-G-A
• gnomAD v3: 7-92502076-G-A
• gnomAD v4: 7-92502076-G-A
• MyVariant Identifiers: chr7:g.92131390G>A (hg19) ; chr7:g.92502076G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502076G>A , CM000669.2:g.92502076G>A	GRCh38
NC_000007.13:g.92131390G>A , CM000669.1:g.92131390G>A	GRCh37
NC_000007.12:g.91969326G>A	NCBI36
NG_008341.1:g.31456C>T
NG_008341.2:g.31456C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2230C>T MANE Select	ENSP00000248633.4:p.Gln744Ter
ENST00000248633.8:c.2230C>T	ENSP00000248633.4:p.Gln744Ter
ENST00000428214.5:c.2059C>T	ENSP00000394413.1:p.Gln687Ter
ENST00000438045.5:c.1264C>T	ENSP00000410438.1:p.Gln422Ter
ENST00000484913.5:n.2269C>T
ENST00000496092.1:n.28C>T
ENST00000496420.5:n.1906C>T
NM_000466.2:c.2230C>T	NP_000457.1:p.Gln744Ter
NM_001282677.1:c.2059C>T	NP_001269606.1:p.Gln687Ter
NM_001282678.1:c.1606C>T	NP_001269607.1:p.Gln536Ter
XM_005250433.3:c.481C>T	XP_005250490.1:p.Gln161Ter
XR_242246.3:n.2326C>T
XM_017012319.2:c.481C>T	XP_016867808.1:p.Gln161Ter
XR_001744808.2:n.1257C>T
XR_242246.5:n.2277C>T
NM_000466.3:c.2230C>T MANE Select	NP_000457.1:p.Gln744Ter
NM_001282677.2:c.2059C>T	NP_001269606.1:p.Gln687Ter
NM_001282678.2:c.1606C>T	NP_001269607.1:p.Gln536Ter