Canonical Allele Identifier: CA161958756

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1174702
• ClinVar RCV Id: RCV001528520 ; RCV001882575 ; RCV002488351
• dbSNP Id: rs769356901
• gnomAD v2: 7-92129061-C-T
• gnomAD v3: 7-92499747-C-T
• gnomAD v4: 7-92499747-C-T
• MyVariant Identifiers: chr7:g.92129061C>T (hg19) ; chr7:g.92499747C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499747C>T , CM000669.2:g.92499747C>T	GRCh38
NC_000007.13:g.92129061C>T , CM000669.1:g.92129061C>T	GRCh37
NC_000007.12:g.91966997C>T	NCBI36
NG_008341.1:g.33785G>A
NG_008341.2:g.33785G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2675G>A MANE Select	ENSP00000248633.4:p.Gly892Glu
ENST00000248633.8:c.2675G>A	ENSP00000248633.4:p.Gly892Glu
ENST00000428214.5:c.2504G>A	ENSP00000394413.1:p.Gly835Glu
ENST00000438045.5:c.1709G>A	ENSP00000410438.1:p.Gly570Glu
ENST00000484913.5:n.2714G>A
ENST00000496420.5:n.2567G>A
NM_000466.2:c.2675G>A	NP_000457.1:p.Gly892Glu
NM_001282677.1:c.2504G>A	NP_001269606.1:p.Gly835Glu
NM_001282678.1:c.2051G>A	NP_001269607.1:p.Gly684Glu
XM_005250433.3:c.926G>A	XP_005250490.1:p.Gly309Glu
XR_242246.3:n.2771G>A
XM_017012319.2:c.926G>A	XP_016867808.1:p.Gly309Glu
XR_001744808.2:n.1702G>A
XR_242246.5:n.2722G>A
NM_000466.3:c.2675G>A MANE Select	NP_000457.1:p.Gly892Glu
NM_001282677.2:c.2504G>A	NP_001269606.1:p.Gly835Glu
NM_001282678.2:c.2051G>A	NP_001269607.1:p.Gly684Glu