Canonical Allele Identifier: CA368161801

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 909411
• ClinVar RCV Id: RCV001160448
• dbSNP Id: rs182452430
• gnomAD v3: 7-92489847-T-G
• gnomAD v4: 7-92489847-T-G
• MyVariant Identifiers: chr7:g.92119161T>G (hg19) ; chr7:g.92489847T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489847T>G , CM000669.2:g.92489847T>G	GRCh38
NC_000007.13:g.92119161T>G , CM000669.1:g.92119161T>G	GRCh37
NC_000007.12:g.91957097T>G	NCBI36
NG_008341.1:g.43685A>C
NG_008341.2:g.43685A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3503A>C (PEX1) MANE Select	ENSP00000248633.4:p.Asp1168Ala
ENST00000248633.8:c.3503A>C (PEX1)	ENSP00000248633.4:p.Asp1168Ala
ENST00000428214.5:c.3332A>C (PEX1)	ENSP00000394413.1:p.Asp1111Ala
ENST00000438045.5:c.2537A>C (PEX1)	ENSP00000410438.1:p.Asp846Ala
ENST00000469417.1:n.400A>C (PEX1)
ENST00000484913.5:n.3542A>C (PEX1)
ENST00000496420.5:n.4558A>C (PEX1)
NM_000466.2:c.3503A>C (PEX1)	NP_000457.1:p.Asp1168Ala
NM_001282677.1:c.3332A>C (PEX1)	NP_001269606.1:p.Asp1111Ala
NM_001282678.1:c.2879A>C (PEX1)	NP_001269607.1:p.Asp960Ala
XM_005250433.3:c.1754A>C (PEX1)	XP_005250490.1:p.Asp585Ala
XR_242246.3:n.3599A>C (PEX1)
XR_927494.1:n.1036-1396T>G (GATAD1)
XR_927495.1:n.1036-239T>G (GATAD1)
XR_927496.1:n.1041-1396T>G (GATAD1)
XR_927497.1:n.1036-239T>G (GATAD1)
XR_927498.1:n.1124-1396T>G (GATAD1)
XR_927500.1:n.1033-1396T>G (GATAD1)
XR_927502.1:n.1033-239T>G (GATAD1)
XR_927503.1:n.967-1396T>G (GATAD1)
XM_017012319.2:c.1754A>C (PEX1)	XP_016867808.1:p.Asp585Ala
XR_001744808.2:n.2530A>C (PEX1)
XR_001744842.2:n.2281-1396T>G (GATAD1)
XR_001744843.2:n.2212-1396T>G (GATAD1)
XR_002956472.1:n.2281-239T>G (GATAD1)
XR_002956473.1:n.2369-1396T>G (GATAD1)
XR_002956474.1:n.2286-1396T>G (GATAD1)
XR_242246.5:n.3550A>C (PEX1)
XR_927494.3:n.1063-1396T>G (GATAD1)
XR_927500.3:n.1060-1396T>G (GATAD1)
XR_927503.3:n.994-1396T>G (GATAD1)
NM_000466.3:c.3503A>C (PEX1) MANE Select	NP_000457.1:p.Asp1168Ala
NM_001282677.2:c.3332A>C (PEX1)	NP_001269606.1:p.Asp1111Ala
NM_001282678.2:c.2879A>C (PEX1)	NP_001269607.1:p.Asp960Ala