Canonical Allele Identifier: CA4340846

Gene: PEX1 GATAD1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491339T>C , CM000669.2:g.92491339T>C	GRCh38
NC_000007.13:g.92120653T>C , CM000669.1:g.92120653T>C	GRCh37
NC_000007.12:g.91958589T>C	NCBI36
NG_008341.1:g.42193A>G
NG_008341.2:g.42193A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3371A>G (PEX1) MANE Select	ENSP00000248633.4:p.Asn1124Ser
ENST00000248633.8:c.3371A>G (PEX1)	ENSP00000248633.4:p.Asn1124Ser
ENST00000428214.5:c.3200A>G (PEX1)	ENSP00000394413.1:p.Asn1067Ser
ENST00000438045.5:c.2405A>G (PEX1)	ENSP00000410438.1:p.Asn802Ser
ENST00000484913.5:n.3410A>G (PEX1)
ENST00000496420.5:n.4426A>G (PEX1)
NM_000466.2:c.3371A>G (PEX1)	NP_000457.1:p.Asn1124Ser
NM_001282677.1:c.3200A>G (PEX1)	NP_001269606.1:p.Asn1067Ser
NM_001282678.1:c.2747A>G (PEX1)	NP_001269607.1:p.Asn916Ser
XM_005250433.3:c.1622A>G (PEX1)	XP_005250490.1:p.Asn541Ser
XR_242246.3:n.3467A>G (PEX1)
XM_017012319.2:c.1622A>G (PEX1)	XP_016867808.1:p.Asn541Ser
XR_001744808.2:n.2398A>G (PEX1)
XR_001744842.2:n.2377T>C (GATAD1)
XR_001744843.2:n.2308T>C (GATAD1)
XR_002956472.1:n.2434T>C (GATAD1)
XR_002956473.1:n.2465T>C (GATAD1)
XR_002956474.1:n.2382T>C (GATAD1)
XR_242246.5:n.3418A>G (PEX1)
XR_927494.3:n.1159T>C (GATAD1)
XR_927500.3:n.1156T>C (GATAD1)
XR_927503.3:n.1090T>C (GATAD1)
NM_000466.3:c.3371A>G (PEX1) MANE Select	NP_000457.1:p.Asn1124Ser
NM_001282677.2:c.3200A>G (PEX1)	NP_001269606.1:p.Asn1067Ser
NM_001282678.2:c.2747A>G (PEX1)	NP_001269607.1:p.Asn916Ser