Canonical Allele Identifier: CA456481970

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2034893
• ClinVar RCV Id: RCV002889766
• dbSNP Id: rs1291534453
• MyVariant Identifiers: chr7:g.92129060C>T (hg19) ; chr7:g.92499746C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499746C>T , CM000669.2:g.92499746C>T	GRCh38
NC_000007.13:g.92129060C>T , CM000669.1:g.92129060C>T	GRCh37
NC_000007.12:g.91966996C>T	NCBI36
NG_008341.1:g.33786G>A
NG_008341.2:g.33786G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2676G>A MANE Select	ENSP00000248633.4:p.Gly892=
ENST00000248633.8:c.2676G>A	ENSP00000248633.4:p.Gly892=
ENST00000428214.5:c.2505G>A	ENSP00000394413.1:p.Gly835=
ENST00000438045.5:c.1710G>A	ENSP00000410438.1:p.Gly570=
ENST00000484913.5:n.2715G>A
ENST00000496420.5:n.2568G>A
NM_000466.2:c.2676G>A	NP_000457.1:p.Gly892=
NM_001282677.1:c.2505G>A	NP_001269606.1:p.Gly835=
NM_001282678.1:c.2052G>A	NP_001269607.1:p.Gly684=
XM_005250433.3:c.927G>A	XP_005250490.1:p.Gly309=
XR_242246.3:n.2772G>A
XM_017012319.2:c.927G>A	XP_016867808.1:p.Gly309=
XR_001744808.2:n.1703G>A
XR_242246.5:n.2723G>A
NM_000466.3:c.2676G>A MANE Select	NP_000457.1:p.Gly892=
NM_001282677.2:c.2505G>A	NP_001269606.1:p.Gly835=
NM_001282678.2:c.2052G>A	NP_001269607.1:p.Gly684=