Canonical Allele Identifier: CA368164174

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1076872
• ClinVar RCV Id: RCV001390901
• dbSNP Id: rs2116059303
• MyVariant Identifiers: chr7:g.92120723C>A (hg19) ; chr7:g.92491409C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491409C>A , CM000669.2:g.92491409C>A	GRCh38
NC_000007.13:g.92120723C>A , CM000669.1:g.92120723C>A	GRCh37
NC_000007.12:g.91958659C>A	NCBI36
NG_008341.1:g.42123G>T
NG_008341.2:g.42123G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3301G>T (PEX1) MANE Select	ENSP00000248633.4:p.Glu1101Ter
ENST00000248633.8:c.3301G>T (PEX1)	ENSP00000248633.4:p.Glu1101Ter
ENST00000428214.5:c.3130G>T (PEX1)	ENSP00000394413.1:p.Glu1044Ter
ENST00000438045.5:c.2335G>T (PEX1)	ENSP00000410438.1:p.Glu779Ter
ENST00000484913.5:n.3340G>T (PEX1)
ENST00000496420.5:n.4356G>T (PEX1)
NM_000466.2:c.3301G>T (PEX1)	NP_000457.1:p.Glu1101Ter
NM_001282677.1:c.3130G>T (PEX1)	NP_001269606.1:p.Glu1044Ter
NM_001282678.1:c.2677G>T (PEX1)	NP_001269607.1:p.Glu893Ter
XM_005250433.3:c.1552G>T (PEX1)	XP_005250490.1:p.Glu518Ter
XR_242246.3:n.3397G>T (PEX1)
XM_017012319.2:c.1552G>T (PEX1)	XP_016867808.1:p.Glu518Ter
XR_001744808.2:n.2328G>T (PEX1)
XR_001744842.2:n.2447C>A (GATAD1)
XR_001744843.2:n.2378C>A (GATAD1)
XR_002956472.1:n.2504C>A (GATAD1)
XR_002956473.1:n.2535C>A (GATAD1)
XR_002956474.1:n.2452C>A (GATAD1)
XR_242246.5:n.3348G>T (PEX1)
XR_927494.3:n.1229C>A (GATAD1)
XR_927500.3:n.1226C>A (GATAD1)
XR_927503.3:n.1160C>A (GATAD1)
NM_000466.3:c.3301G>T (PEX1) MANE Select	NP_000457.1:p.Glu1101Ter
NM_001282677.2:c.3130G>T (PEX1)	NP_001269606.1:p.Glu1044Ter
NM_001282678.2:c.2677G>T (PEX1)	NP_001269607.1:p.Glu893Ter