Canonical Allele Identifier: CA220978

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 93108
• ClinVar RCV Id: RCV000078924 ; RCV000368382 ; RCV001277303 ; RCV001252811 ; RCV003935024
• dbSNP Id: rs144825021
• ExAC: 7:92123935 G / T
• gnomAD v2: 7-92123935-G-T
• gnomAD v3: 7-92494621-G-T
• gnomAD v4: 7-92494621-G-T
• MyVariant Identifiers: chr7:g.92123935G>T (hg19) ; chr7:g.92494621G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494621G>T , CM000669.2:g.92494621G>T	GRCh38
NC_000007.13:g.92123935G>T , CM000669.1:g.92123935G>T	GRCh37
NC_000007.12:g.91961871G>T	NCBI36
NG_008341.1:g.38911C>A
NG_008341.2:g.38911C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2792C>A (PEX1) MANE Select	ENSP00000248633.4:p.Ala931Asp
ENST00000248633.8:c.2792C>A (PEX1)	ENSP00000248633.4:p.Ala931Asp
ENST00000428214.5:c.2621C>A (PEX1)	ENSP00000394413.1:p.Ala874Asp
ENST00000438045.5:c.1826C>A (PEX1)	ENSP00000410438.1:p.Ala609Asp
ENST00000484913.5:n.2831C>A (PEX1)
ENST00000496420.5:n.2684C>A (PEX1)
NM_000466.2:c.2792C>A (PEX1)	NP_000457.1:p.Ala931Asp
NM_001282677.1:c.2621C>A (PEX1)	NP_001269606.1:p.Ala874Asp
NM_001282678.1:c.2168C>A (PEX1)	NP_001269607.1:p.Ala723Asp
XM_005250433.3:c.1043C>A (PEX1)	XP_005250490.1:p.Ala348Asp
XR_242246.3:n.2888C>A (PEX1)
XM_017012319.2:c.1043C>A (PEX1)	XP_016867808.1:p.Ala348Asp
XR_001744808.2:n.1819C>A (PEX1)
XR_001744843.2:n.5590G>T (GATAD1)
XR_242246.5:n.2839C>A (PEX1)
XR_927494.3:n.4441G>T (GATAD1)
XR_927503.3:n.4372G>T (GATAD1)
NM_000466.3:c.2792C>A (PEX1) MANE Select	NP_000457.1:p.Ala931Asp
NM_001282677.2:c.2621C>A (PEX1)	NP_001269606.1:p.Ala874Asp
NM_001282678.2:c.2168C>A (PEX1)	NP_001269607.1:p.Ala723Asp