Canonical Allele Identifier: CA368164415

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120749C>G (hg19) ; chr7:g.92491435C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491435C>G , CM000669.2:g.92491435C>G	GRCh38
NC_000007.13:g.92120749C>G , CM000669.1:g.92120749C>G	GRCh37
NC_000007.12:g.91958685C>G	NCBI36
NG_008341.1:g.42097G>C
NG_008341.2:g.42097G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3275G>C (PEX1) MANE Select	ENSP00000248633.4:p.Gly1092Ala
ENST00000248633.8:c.3275G>C (PEX1)	ENSP00000248633.4:p.Gly1092Ala
ENST00000428214.5:c.3104G>C (PEX1)	ENSP00000394413.1:p.Gly1035Ala
ENST00000438045.5:c.2309G>C (PEX1)	ENSP00000410438.1:p.Gly770Ala
ENST00000484913.5:n.3314G>C (PEX1)
ENST00000496420.5:n.4330G>C (PEX1)
NM_000466.2:c.3275G>C (PEX1)	NP_000457.1:p.Gly1092Ala
NM_001282677.1:c.3104G>C (PEX1)	NP_001269606.1:p.Gly1035Ala
NM_001282678.1:c.2651G>C (PEX1)	NP_001269607.1:p.Gly884Ala
XM_005250433.3:c.1526G>C (PEX1)	XP_005250490.1:p.Gly509Ala
XR_242246.3:n.3371G>C (PEX1)
XM_017012319.2:c.1526G>C (PEX1)	XP_016867808.1:p.Gly509Ala
XR_001744808.2:n.2302G>C (PEX1)
XR_001744842.2:n.2473C>G (GATAD1)
XR_001744843.2:n.2404C>G (GATAD1)
XR_002956472.1:n.2530C>G (GATAD1)
XR_002956473.1:n.2561C>G (GATAD1)
XR_002956474.1:n.2478C>G (GATAD1)
XR_242246.5:n.3322G>C (PEX1)
XR_927494.3:n.1255C>G (GATAD1)
XR_927500.3:n.1252C>G (GATAD1)
XR_927503.3:n.1186C>G (GATAD1)
NM_000466.3:c.3275G>C (PEX1) MANE Select	NP_000457.1:p.Gly1092Ala
NM_001282677.2:c.3104G>C (PEX1)	NP_001269606.1:p.Gly1035Ala
NM_001282678.2:c.2651G>C (PEX1)	NP_001269607.1:p.Gly884Ala