Canonical Allele Identifier: CA456480828

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92119178A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489864A>C , CM000669.2:g.92489864A>C	GRCh38
NC_000007.13:g.92119178A>C , CM000669.1:g.92119178A>C	GRCh37
NC_000007.12:g.91957114A>C	NCBI36
NG_008341.1:g.43668T>G
NG_008341.2:g.43668T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3486T>G (PEX1) MANE Select	ENSP00000248633.4:p.Pro1162=
ENST00000248633.8:c.3486T>G (PEX1)	ENSP00000248633.4:p.Pro1162=
ENST00000428214.5:c.3315T>G (PEX1)	ENSP00000394413.1:p.Pro1105=
ENST00000438045.5:c.2520T>G (PEX1)	ENSP00000410438.1:p.Pro840=
ENST00000469417.1:n.383T>G (PEX1)
ENST00000484913.5:n.3525T>G (PEX1)
ENST00000496420.5:n.4541T>G (PEX1)
NM_000466.2:c.3486T>G (PEX1)	NP_000457.1:p.Pro1162=
NM_001282677.1:c.3315T>G (PEX1)	NP_001269606.1:p.Pro1105=
NM_001282678.1:c.2862T>G (PEX1)	NP_001269607.1:p.Pro954=
XM_005250433.3:c.1737T>G (PEX1)	XP_005250490.1:p.Pro579=
XR_242246.3:n.3582T>G (PEX1)
XR_927494.1:n.1036-1379A>C (GATAD1)
XR_927495.1:n.1036-222A>C (GATAD1)
XR_927496.1:n.1041-1379A>C (GATAD1)
XR_927497.1:n.1036-222A>C (GATAD1)
XR_927498.1:n.1124-1379A>C (GATAD1)
XR_927500.1:n.1033-1379A>C (GATAD1)
XR_927502.1:n.1033-222A>C (GATAD1)
XR_927503.1:n.967-1379A>C (GATAD1)
XM_017012319.2:c.1737T>G (PEX1)	XP_016867808.1:p.Pro579=
XR_001744808.2:n.2513T>G (PEX1)
XR_001744842.2:n.2281-1379A>C (GATAD1)
XR_001744843.2:n.2212-1379A>C (GATAD1)
XR_002956472.1:n.2281-222A>C (GATAD1)
XR_002956473.1:n.2369-1379A>C (GATAD1)
XR_002956474.1:n.2286-1379A>C (GATAD1)
XR_242246.5:n.3533T>G (PEX1)
XR_927494.3:n.1063-1379A>C (GATAD1)
XR_927500.3:n.1060-1379A>C (GATAD1)
XR_927503.3:n.994-1379A>C (GATAD1)
NM_000466.3:c.3486T>G (PEX1) MANE Select	NP_000457.1:p.Pro1162=
NM_001282677.2:c.3315T>G (PEX1)	NP_001269606.1:p.Pro1105=
NM_001282678.2:c.2862T>G (PEX1)	NP_001269607.1:p.Pro954=