Canonical Allele Identifier: CA4340811

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs751287526
• ExAC: 7:92119187 C / A
• gnomAD v2: 7-92119187-C-A
• MyVariant Identifiers: chr7:g.92119187C>A (hg19) ; chr7:g.92489873C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489873C>A , CM000669.2:g.92489873C>A	GRCh38
NC_000007.13:g.92119187C>A , CM000669.1:g.92119187C>A	GRCh37
NC_000007.12:g.91957123C>A	NCBI36
NG_008341.1:g.43659G>T
NG_008341.2:g.43659G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3477G>T (PEX1) MANE Select	ENSP00000248633.4:p.Gln1159His
ENST00000248633.8:c.3477G>T (PEX1)	ENSP00000248633.4:p.Gln1159His
ENST00000428214.5:c.3306G>T (PEX1)	ENSP00000394413.1:p.Gln1102His
ENST00000438045.5:c.2511G>T (PEX1)	ENSP00000410438.1:p.Gln837His
ENST00000469417.1:n.374G>T (PEX1)
ENST00000484913.5:n.3516G>T (PEX1)
ENST00000496420.5:n.4532G>T (PEX1)
NM_000466.2:c.3477G>T (PEX1)	NP_000457.1:p.Gln1159His
NM_001282677.1:c.3306G>T (PEX1)	NP_001269606.1:p.Gln1102His
NM_001282678.1:c.2853G>T (PEX1)	NP_001269607.1:p.Gln951His
XM_005250433.3:c.1728G>T (PEX1)	XP_005250490.1:p.Gln576His
XR_242246.3:n.3573G>T (PEX1)
XR_927494.1:n.1036-1370C>A (GATAD1)
XR_927495.1:n.1036-213C>A (GATAD1)
XR_927496.1:n.1041-1370C>A (GATAD1)
XR_927497.1:n.1036-213C>A (GATAD1)
XR_927498.1:n.1124-1370C>A (GATAD1)
XR_927500.1:n.1033-1370C>A (GATAD1)
XR_927502.1:n.1033-213C>A (GATAD1)
XR_927503.1:n.967-1370C>A (GATAD1)
XM_017012319.2:c.1728G>T (PEX1)	XP_016867808.1:p.Gln576His
XR_001744808.2:n.2504G>T (PEX1)
XR_001744842.2:n.2281-1370C>A (GATAD1)
XR_001744843.2:n.2212-1370C>A (GATAD1)
XR_002956472.1:n.2281-213C>A (GATAD1)
XR_002956473.1:n.2369-1370C>A (GATAD1)
XR_002956474.1:n.2286-1370C>A (GATAD1)
XR_242246.5:n.3524G>T (PEX1)
XR_927494.3:n.1063-1370C>A (GATAD1)
XR_927500.3:n.1060-1370C>A (GATAD1)
XR_927503.3:n.994-1370C>A (GATAD1)
NM_000466.3:c.3477G>T (PEX1) MANE Select	NP_000457.1:p.Gln1159His
NM_001282677.2:c.3306G>T (PEX1)	NP_001269606.1:p.Gln1102His
NM_001282678.2:c.2853G>T (PEX1)	NP_001269607.1:p.Gln951His