Canonical Allele Identifier: CA368163540

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120635A>G (hg19) ; chr7:g.92491321A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491321A>G , CM000669.2:g.92491321A>G	GRCh38
NC_000007.13:g.92120635A>G , CM000669.1:g.92120635A>G	GRCh37
NC_000007.12:g.91958571A>G	NCBI36
NG_008341.1:g.42211T>C
NG_008341.2:g.42211T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3389T>C (PEX1) MANE Select	ENSP00000248633.4:p.Phe1130Ser
ENST00000248633.8:c.3389T>C (PEX1)	ENSP00000248633.4:p.Phe1130Ser
ENST00000428214.5:c.3218T>C (PEX1)	ENSP00000394413.1:p.Phe1073Ser
ENST00000438045.5:c.2423T>C (PEX1)	ENSP00000410438.1:p.Phe808Ser
ENST00000484913.5:n.3428T>C (PEX1)
ENST00000496420.5:n.4444T>C (PEX1)
NM_000466.2:c.3389T>C (PEX1)	NP_000457.1:p.Phe1130Ser
NM_001282677.1:c.3218T>C (PEX1)	NP_001269606.1:p.Phe1073Ser
NM_001282678.1:c.2765T>C (PEX1)	NP_001269607.1:p.Phe922Ser
XM_005250433.3:c.1640T>C (PEX1)	XP_005250490.1:p.Phe547Ser
XR_242246.3:n.3485T>C (PEX1)
XR_927494.1:n.1114A>G (GATAD1)
XR_927496.1:n.1119A>G (GATAD1)
XR_927497.1:n.1171A>G (GATAD1)
XR_927498.1:n.1202A>G (GATAD1)
XR_927500.1:n.1111A>G (GATAD1)
XR_927503.1:n.1045A>G (GATAD1)
XM_017012319.2:c.1640T>C (PEX1)	XP_016867808.1:p.Phe547Ser
XR_001744808.2:n.2416T>C (PEX1)
XR_001744842.2:n.2359A>G (GATAD1)
XR_001744843.2:n.2290A>G (GATAD1)
XR_002956472.1:n.2416A>G (GATAD1)
XR_002956473.1:n.2447A>G (GATAD1)
XR_002956474.1:n.2364A>G (GATAD1)
XR_242246.5:n.3436T>C (PEX1)
XR_927494.3:n.1141A>G (GATAD1)
XR_927500.3:n.1138A>G (GATAD1)
XR_927503.3:n.1072A>G (GATAD1)
NM_000466.3:c.3389T>C (PEX1) MANE Select	NP_000457.1:p.Phe1130Ser
NM_001282677.2:c.3218T>C (PEX1)	NP_001269606.1:p.Phe1073Ser
NM_001282678.2:c.2765T>C (PEX1)	NP_001269607.1:p.Phe922Ser