Canonical Allele Identifier: CA368163745

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120658T>A (hg19) ; chr7:g.92491344T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491344T>A , CM000669.2:g.92491344T>A	GRCh38
NC_000007.13:g.92120658T>A , CM000669.1:g.92120658T>A	GRCh37
NC_000007.12:g.91958594T>A	NCBI36
NG_008341.1:g.42188A>T
NG_008341.2:g.42188A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3366A>T (PEX1) MANE Select	ENSP00000248633.4:p.Lys1122Asn
ENST00000248633.8:c.3366A>T (PEX1)	ENSP00000248633.4:p.Lys1122Asn
ENST00000428214.5:c.3195A>T (PEX1)	ENSP00000394413.1:p.Lys1065Asn
ENST00000438045.5:c.2400A>T (PEX1)	ENSP00000410438.1:p.Lys800Asn
ENST00000484913.5:n.3405A>T (PEX1)
ENST00000496420.5:n.4421A>T (PEX1)
NM_000466.2:c.3366A>T (PEX1)	NP_000457.1:p.Lys1122Asn
NM_001282677.1:c.3195A>T (PEX1)	NP_001269606.1:p.Lys1065Asn
NM_001282678.1:c.2742A>T (PEX1)	NP_001269607.1:p.Lys914Asn
XM_005250433.3:c.1617A>T (PEX1)	XP_005250490.1:p.Lys539Asn
XR_242246.3:n.3462A>T (PEX1)
XM_017012319.2:c.1617A>T (PEX1)	XP_016867808.1:p.Lys539Asn
XR_001744808.2:n.2393A>T (PEX1)
XR_001744842.2:n.2382T>A (GATAD1)
XR_001744843.2:n.2313T>A (GATAD1)
XR_002956472.1:n.2439T>A (GATAD1)
XR_002956473.1:n.2470T>A (GATAD1)
XR_002956474.1:n.2387T>A (GATAD1)
XR_242246.5:n.3413A>T (PEX1)
XR_927494.3:n.1164T>A (GATAD1)
XR_927500.3:n.1161T>A (GATAD1)
XR_927503.3:n.1095T>A (GATAD1)
NM_000466.3:c.3366A>T (PEX1) MANE Select	NP_000457.1:p.Lys1122Asn
NM_001282677.2:c.3195A>T (PEX1)	NP_001269606.1:p.Lys1065Asn
NM_001282678.2:c.2742A>T (PEX1)	NP_001269607.1:p.Lys914Asn