Canonical Allele Identifier: CA368161595

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92119122G>T (hg19) ; chr7:g.92489808G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489808G>T , CM000669.2:g.92489808G>T	GRCh38
NC_000007.13:g.92119122G>T , CM000669.1:g.92119122G>T	GRCh37
NC_000007.12:g.91957058G>T	NCBI36
NG_008341.1:g.43724C>A
NG_008341.2:g.43724C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3542C>A (PEX1) MANE Select	ENSP00000248633.4:p.Ser1181Ter
ENST00000248633.8:c.3542C>A (PEX1)	ENSP00000248633.4:p.Ser1181Ter
ENST00000428214.5:c.3371C>A (PEX1)	ENSP00000394413.1:p.Ser1124Ter
ENST00000438045.5:c.2576C>A (PEX1)	ENSP00000410438.1:p.Ser859Ter
ENST00000469417.1:n.439C>A (PEX1)
ENST00000484913.5:n.3581C>A (PEX1)
ENST00000496420.5:n.4597C>A (PEX1)
NM_000466.2:c.3542C>A (PEX1)	NP_000457.1:p.Ser1181Ter
NM_001282677.1:c.3371C>A (PEX1)	NP_001269606.1:p.Ser1124Ter
NM_001282678.1:c.2918C>A (PEX1)	NP_001269607.1:p.Ser973Ter
XM_005250433.3:c.1793C>A (PEX1)	XP_005250490.1:p.Ser598Ter
XR_242246.3:n.3638C>A (PEX1)
XR_927494.1:n.1036-1435G>T (GATAD1)
XR_927495.1:n.1036-278G>T (GATAD1)
XR_927496.1:n.1041-1435G>T (GATAD1)
XR_927497.1:n.1036-278G>T (GATAD1)
XR_927498.1:n.1124-1435G>T (GATAD1)
XR_927500.1:n.1033-1435G>T (GATAD1)
XR_927502.1:n.1033-278G>T (GATAD1)
XR_927503.1:n.967-1435G>T (GATAD1)
XM_017012319.2:c.1793C>A (PEX1)	XP_016867808.1:p.Ser598Ter
XR_001744808.2:n.2569C>A (PEX1)
XR_001744842.2:n.2281-1435G>T (GATAD1)
XR_001744843.2:n.2212-1435G>T (GATAD1)
XR_002956472.1:n.2281-278G>T (GATAD1)
XR_002956473.1:n.2369-1435G>T (GATAD1)
XR_002956474.1:n.2286-1435G>T (GATAD1)
XR_242246.5:n.3589C>A (PEX1)
XR_927494.3:n.1063-1435G>T (GATAD1)
XR_927500.3:n.1060-1435G>T (GATAD1)
XR_927503.3:n.994-1435G>T (GATAD1)
NM_000466.3:c.3542C>A (PEX1) MANE Select	NP_000457.1:p.Ser1181Ter
NM_001282677.2:c.3371C>A (PEX1)	NP_001269606.1:p.Ser1124Ter
NM_001282678.2:c.2918C>A (PEX1)	NP_001269607.1:p.Ser973Ter