Canonical Allele Identifier: CA456481579

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1656123
• ClinVar RCV Id: RCV002161568
• dbSNP Id: rs2116094397
• MyVariant Identifiers: chr7:g.92123841G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494527G>A , CM000669.2:g.92494527G>A	GRCh38
NC_000007.13:g.92123841G>A , CM000669.1:g.92123841G>A	GRCh37
NC_000007.12:g.91961777G>A	NCBI36
NG_008341.1:g.39005C>T
NG_008341.2:g.39005C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2886C>T (PEX1) MANE Select	ENSP00000248633.4:p.Asn962=
ENST00000248633.8:c.2886C>T (PEX1)	ENSP00000248633.4:p.Asn962=
ENST00000428214.5:c.2715C>T (PEX1)	ENSP00000394413.1:p.Asn905=
ENST00000438045.5:c.1920C>T (PEX1)	ENSP00000410438.1:p.Asn640=
ENST00000484913.5:n.2925C>T (PEX1)
ENST00000496420.5:n.2778C>T (PEX1)
NM_000466.2:c.2886C>T (PEX1)	NP_000457.1:p.Asn962=
NM_001282677.1:c.2715C>T (PEX1)	NP_001269606.1:p.Asn905=
NM_001282678.1:c.2262C>T (PEX1)	NP_001269607.1:p.Asn754=
XM_005250433.3:c.1137C>T (PEX1)	XP_005250490.1:p.Asn379=
XR_242246.3:n.2982C>T (PEX1)
XM_017012319.2:c.1137C>T (PEX1)	XP_016867808.1:p.Asn379=
XR_001744808.2:n.1913C>T (PEX1)
XR_001744843.2:n.5496G>A (GATAD1)
XR_242246.5:n.2933C>T (PEX1)
XR_927494.3:n.4347G>A (GATAD1)
XR_927503.3:n.4278G>A (GATAD1)
NM_000466.3:c.2886C>T (PEX1) MANE Select	NP_000457.1:p.Asn962=
NM_001282677.2:c.2715C>T (PEX1)	NP_001269606.1:p.Asn905=
NM_001282678.2:c.2262C>T (PEX1)	NP_001269607.1:p.Asn754=