Canonical Allele Identifier: CA368163577

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120641A>G (hg19) ; chr7:g.92491327A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491327A>G , CM000669.2:g.92491327A>G	GRCh38
NC_000007.13:g.92120641A>G , CM000669.1:g.92120641A>G	GRCh37
NC_000007.12:g.91958577A>G	NCBI36
NG_008341.1:g.42205T>C
NG_008341.2:g.42205T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3383T>C (PEX1) MANE Select	ENSP00000248633.4:p.Leu1128Pro
ENST00000248633.8:c.3383T>C (PEX1)	ENSP00000248633.4:p.Leu1128Pro
ENST00000428214.5:c.3212T>C (PEX1)	ENSP00000394413.1:p.Leu1071Pro
ENST00000438045.5:c.2417T>C (PEX1)	ENSP00000410438.1:p.Leu806Pro
ENST00000484913.5:n.3422T>C (PEX1)
ENST00000496420.5:n.4438T>C (PEX1)
NM_000466.2:c.3383T>C (PEX1)	NP_000457.1:p.Leu1128Pro
NM_001282677.1:c.3212T>C (PEX1)	NP_001269606.1:p.Leu1071Pro
NM_001282678.1:c.2759T>C (PEX1)	NP_001269607.1:p.Leu920Pro
XM_005250433.3:c.1634T>C (PEX1)	XP_005250490.1:p.Leu545Pro
XR_242246.3:n.3479T>C (PEX1)
XR_927497.1:n.1177A>G (GATAD1)
XM_017012319.2:c.1634T>C (PEX1)	XP_016867808.1:p.Leu545Pro
XR_001744808.2:n.2410T>C (PEX1)
XR_001744842.2:n.2365A>G (GATAD1)
XR_001744843.2:n.2296A>G (GATAD1)
XR_002956472.1:n.2422A>G (GATAD1)
XR_002956473.1:n.2453A>G (GATAD1)
XR_002956474.1:n.2370A>G (GATAD1)
XR_242246.5:n.3430T>C (PEX1)
XR_927494.3:n.1147A>G (GATAD1)
XR_927500.3:n.1144A>G (GATAD1)
XR_927503.3:n.1078A>G (GATAD1)
NM_000466.3:c.3383T>C (PEX1) MANE Select	NP_000457.1:p.Leu1128Pro
NM_001282677.2:c.3212T>C (PEX1)	NP_001269606.1:p.Leu1071Pro
NM_001282678.2:c.2759T>C (PEX1)	NP_001269607.1:p.Leu920Pro