Canonical Allele Identifier: CA2578937742

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92489933-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489933T>C , CM000669.2:g.92489933T>C	GRCh38
NC_000007.13:g.92119247T>C , CM000669.1:g.92119247T>C	GRCh37
NC_000007.12:g.91957183T>C	NCBI36
NG_008341.1:g.43599A>G
NG_008341.2:g.43599A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3439-22A>G (PEX1) MANE Select	ENSP00000248633.4:n.3439-22A>G
ENST00000248633.8:c.3439-22A>G (PEX1)	ENSP00000248633.4:n.3439-22A>G
ENST00000428214.5:c.3268-22A>G (PEX1)	ENSP00000394413.1:n.3268-22A>G
ENST00000438045.5:c.2473-22A>G (PEX1)	ENSP00000410438.1:n.2473-22A>G
ENST00000469417.1:n.314A>G (PEX1)
ENST00000484913.5:n.3478-22A>G (PEX1)
ENST00000496420.5:n.4494-22A>G (PEX1)
NM_000466.2:c.3439-22A>G (PEX1)	NP_000457.1:n.3439-22A>G
NM_001282677.1:c.3268-22A>G (PEX1)	NP_001269606.1:n.3268-22A>G
NM_001282678.1:c.2815-22A>G (PEX1)	NP_001269607.1:n.2815-22A>G
XM_005250433.3:c.1690-22A>G (PEX1)	XP_005250490.1:n.1690-22A>G
XR_242246.3:n.3535-22A>G (PEX1)
XR_927494.1:n.1036-1310T>C (GATAD1)
XR_927495.1:n.1036-153T>C (GATAD1)
XR_927496.1:n.1041-1310T>C (GATAD1)
XR_927497.1:n.1036-153T>C (GATAD1)
XR_927498.1:n.1124-1310T>C (GATAD1)
XR_927500.1:n.1033-1310T>C (GATAD1)
XR_927502.1:n.1033-153T>C (GATAD1)
XR_927503.1:n.967-1310T>C (GATAD1)
XM_017012319.2:c.1690-22A>G (PEX1)	XP_016867808.1:n.1690-22A>G
XR_001744808.2:n.2466-22A>G (PEX1)
XR_001744842.2:n.2281-1310T>C (GATAD1)
XR_001744843.2:n.2212-1310T>C (GATAD1)
XR_002956472.1:n.2281-153T>C (GATAD1)
XR_002956473.1:n.2369-1310T>C (GATAD1)
XR_002956474.1:n.2286-1310T>C (GATAD1)
XR_242246.5:n.3486-22A>G (PEX1)
XR_927494.3:n.1063-1310T>C (GATAD1)
XR_927500.3:n.1060-1310T>C (GATAD1)
XR_927503.3:n.994-1310T>C (GATAD1)
NM_000466.3:c.3439-22A>G (PEX1) MANE Select	NP_000457.1:n.3439-22A>G
NM_001282677.2:c.3268-22A>G (PEX1)	NP_001269606.1:n.3268-22A>G
NM_001282678.2:c.2815-22A>G (PEX1)	NP_001269607.1:n.2815-22A>G