Canonical Allele Identifier: CA368168502

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 587523
• ClinVar RCV Id: RCV000714723 ; RCV000714724 ; RCV000714725
• dbSNP Id: rs773206107
• MyVariant Identifiers: chr7:g.92123851C>G (hg19) ; chr7:g.92494537C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494537C>G , CM000669.2:g.92494537C>G	GRCh38
NC_000007.13:g.92123851C>G , CM000669.1:g.92123851C>G	GRCh37
NC_000007.12:g.91961787C>G	NCBI36
NG_008341.1:g.38995G>C
NG_008341.2:g.38995G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2876G>C (PEX1) MANE Select	ENSP00000248633.4:p.Arg959Pro
ENST00000248633.8:c.2876G>C (PEX1)	ENSP00000248633.4:p.Arg959Pro
ENST00000428214.5:c.2705G>C (PEX1)	ENSP00000394413.1:p.Arg902Pro
ENST00000438045.5:c.1910G>C (PEX1)	ENSP00000410438.1:p.Arg637Pro
ENST00000484913.5:n.2915G>C (PEX1)
ENST00000496420.5:n.2768G>C (PEX1)
NM_000466.2:c.2876G>C (PEX1)	NP_000457.1:p.Arg959Pro
NM_001282677.1:c.2705G>C (PEX1)	NP_001269606.1:p.Arg902Pro
NM_001282678.1:c.2252G>C (PEX1)	NP_001269607.1:p.Arg751Pro
XM_005250433.3:c.1127G>C (PEX1)	XP_005250490.1:p.Arg376Pro
XR_242246.3:n.2972G>C (PEX1)
XM_017012319.2:c.1127G>C (PEX1)	XP_016867808.1:p.Arg376Pro
XR_001744808.2:n.1903G>C (PEX1)
XR_001744843.2:n.5506C>G (GATAD1)
XR_242246.5:n.2923G>C (PEX1)
XR_927494.3:n.4357C>G (GATAD1)
XR_927503.3:n.4288C>G (GATAD1)
NM_000466.3:c.2876G>C (PEX1) MANE Select	NP_000457.1:p.Arg959Pro
NM_001282677.2:c.2705G>C (PEX1)	NP_001269606.1:p.Arg902Pro
NM_001282678.2:c.2252G>C (PEX1)	NP_001269607.1:p.Arg751Pro