Canonical Allele Identifier: CA16041155

Gene: PEX1

Linked Data

• ClinVar Variation Id: 371699
• ClinVar RCV Id: RCV000410160 ; RCV000412134 ; RCV002523885 ; RCV003475978
• dbSNP Id: rs1057517468
• gnomAD v4: 7-92503130-G-A
• MyVariant Identifiers: chr7:g.92132444G>A (hg19) ; chr7:g.92503130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503130G>A , CM000669.2:g.92503130G>A	GRCh38
NC_000007.13:g.92132444G>A , CM000669.1:g.92132444G>A	GRCh37
NC_000007.12:g.91970380G>A	NCBI36
NG_008341.1:g.30402C>T
NG_008341.2:g.30402C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2137C>T MANE Select	ENSP00000248633.4:p.Gln713Ter
ENST00000248633.8:c.2137C>T	ENSP00000248633.4:p.Gln713Ter
ENST00000428214.5:c.1966C>T	ENSP00000394413.1:p.Gln656Ter
ENST00000438045.5:c.1171C>T	ENSP00000410438.1:p.Gln391Ter
ENST00000484913.5:n.2176C>T
ENST00000496420.5:n.1813C>T
NM_000466.2:c.2137C>T	NP_000457.1:p.Gln713Ter
NM_001282677.1:c.1966C>T	NP_001269606.1:p.Gln656Ter
NM_001282678.1:c.1513C>T	NP_001269607.1:p.Gln505Ter
XM_005250433.3:c.388C>T	XP_005250490.1:p.Gln130Ter
XR_242246.3:n.2233C>T
XM_017012319.2:c.388C>T	XP_016867808.1:p.Gln130Ter
XR_001744808.2:n.1164C>T
XR_242246.5:n.2184C>T
NM_000466.3:c.2137C>T MANE Select	NP_000457.1:p.Gln713Ter
NM_001282677.2:c.1966C>T	NP_001269606.1:p.Gln656Ter
NM_001282678.2:c.1513C>T	NP_001269607.1:p.Gln505Ter