Canonical Allele Identifier: CA368163705

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120655G>C (hg19) ; chr7:g.92491341G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491341G>C , CM000669.2:g.92491341G>C	GRCh38
NC_000007.13:g.92120655G>C , CM000669.1:g.92120655G>C	GRCh37
NC_000007.12:g.91958591G>C	NCBI36
NG_008341.1:g.42191C>G
NG_008341.2:g.42191C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3369C>G (PEX1) MANE Select	ENSP00000248633.4:p.Phe1123Leu
ENST00000248633.8:c.3369C>G (PEX1)	ENSP00000248633.4:p.Phe1123Leu
ENST00000428214.5:c.3198C>G (PEX1)	ENSP00000394413.1:p.Phe1066Leu
ENST00000438045.5:c.2403C>G (PEX1)	ENSP00000410438.1:p.Phe801Leu
ENST00000484913.5:n.3408C>G (PEX1)
ENST00000496420.5:n.4424C>G (PEX1)
NM_000466.2:c.3369C>G (PEX1)	NP_000457.1:p.Phe1123Leu
NM_001282677.1:c.3198C>G (PEX1)	NP_001269606.1:p.Phe1066Leu
NM_001282678.1:c.2745C>G (PEX1)	NP_001269607.1:p.Phe915Leu
XM_005250433.3:c.1620C>G (PEX1)	XP_005250490.1:p.Phe540Leu
XR_242246.3:n.3465C>G (PEX1)
XM_017012319.2:c.1620C>G (PEX1)	XP_016867808.1:p.Phe540Leu
XR_001744808.2:n.2396C>G (PEX1)
XR_001744842.2:n.2379G>C (GATAD1)
XR_001744843.2:n.2310G>C (GATAD1)
XR_002956472.1:n.2436G>C (GATAD1)
XR_002956473.1:n.2467G>C (GATAD1)
XR_002956474.1:n.2384G>C (GATAD1)
XR_242246.5:n.3416C>G (PEX1)
XR_927494.3:n.1161G>C (GATAD1)
XR_927500.3:n.1158G>C (GATAD1)
XR_927503.3:n.1092G>C (GATAD1)
NM_000466.3:c.3369C>G (PEX1) MANE Select	NP_000457.1:p.Phe1123Leu
NM_001282677.2:c.3198C>G (PEX1)	NP_001269606.1:p.Phe1066Leu
NM_001282678.2:c.2745C>G (PEX1)	NP_001269607.1:p.Phe915Leu