Canonical Allele Identifier: CA368163978

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120692A>T (hg19) ; chr7:g.92491378A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491378A>T , CM000669.2:g.92491378A>T	GRCh38
NC_000007.13:g.92120692A>T , CM000669.1:g.92120692A>T	GRCh37
NC_000007.12:g.91958628A>T	NCBI36
NG_008341.1:g.42154T>A
NG_008341.2:g.42154T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3332T>A (PEX1) MANE Select	ENSP00000248633.4:p.Leu1111Ter
ENST00000248633.8:c.3332T>A (PEX1)	ENSP00000248633.4:p.Leu1111Ter
ENST00000428214.5:c.3161T>A (PEX1)	ENSP00000394413.1:p.Leu1054Ter
ENST00000438045.5:c.2366T>A (PEX1)	ENSP00000410438.1:p.Leu789Ter
ENST00000484913.5:n.3371T>A (PEX1)
ENST00000496420.5:n.4387T>A (PEX1)
NM_000466.2:c.3332T>A (PEX1)	NP_000457.1:p.Leu1111Ter
NM_001282677.1:c.3161T>A (PEX1)	NP_001269606.1:p.Leu1054Ter
NM_001282678.1:c.2708T>A (PEX1)	NP_001269607.1:p.Leu903Ter
XM_005250433.3:c.1583T>A (PEX1)	XP_005250490.1:p.Leu528Ter
XR_242246.3:n.3428T>A (PEX1)
XM_017012319.2:c.1583T>A (PEX1)	XP_016867808.1:p.Leu528Ter
XR_001744808.2:n.2359T>A (PEX1)
XR_001744842.2:n.2416A>T (GATAD1)
XR_001744843.2:n.2347A>T (GATAD1)
XR_002956472.1:n.2473A>T (GATAD1)
XR_002956473.1:n.2504A>T (GATAD1)
XR_002956474.1:n.2421A>T (GATAD1)
XR_242246.5:n.3379T>A (PEX1)
XR_927494.3:n.1198A>T (GATAD1)
XR_927500.3:n.1195A>T (GATAD1)
XR_927503.3:n.1129A>T (GATAD1)
NM_000466.3:c.3332T>A (PEX1) MANE Select	NP_000457.1:p.Leu1111Ter
NM_001282677.2:c.3161T>A (PEX1)	NP_001269606.1:p.Leu1054Ter
NM_001282678.2:c.2708T>A (PEX1)	NP_001269607.1:p.Leu903Ter