Canonical Allele Identifier: CA4340765

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs756953510
• ExAC: 7:92118735 C / A
• gnomAD v2: 7-92118735-C-A
• gnomAD v4: 7-92489421-C-A
• MyVariant Identifiers: chr7:g.92118735C>A (hg19) ; chr7:g.92489421C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489421C>A , CM000669.2:g.92489421C>A	GRCh38
NC_000007.13:g.92118735C>A , CM000669.1:g.92118735C>A	GRCh37
NC_000007.12:g.91956671C>A	NCBI36
NG_008341.1:g.44111G>T
NG_008341.2:g.44111G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3639G>T (PEX1) MANE Select	ENSP00000248633.4:p.Glu1213Asp
ENST00000248633.8:c.3639G>T (PEX1)	ENSP00000248633.4:p.Glu1213Asp
ENST00000428214.5:c.3468G>T (PEX1)	ENSP00000394413.1:p.Glu1156Asp
ENST00000438045.5:c.2673G>T (PEX1)	ENSP00000410438.1:p.Glu891Asp
ENST00000469417.1:n.536G>T (PEX1)
ENST00000477342.1:n.374G>T (PEX1)
ENST00000484913.5:n.3678G>T (PEX1)
ENST00000496420.5:n.4689G>T (PEX1)
NM_000466.2:c.3639G>T (PEX1)	NP_000457.1:p.Glu1213Asp
NM_001282677.1:c.3468G>T (PEX1)	NP_001269606.1:p.Glu1156Asp
NM_001282678.1:c.3015G>T (PEX1)	NP_001269607.1:p.Glu1005Asp
XM_005250433.3:c.1890G>T (PEX1)	XP_005250490.1:p.Glu630Asp
XR_242246.3:n.3730G>T (PEX1)
XR_927494.1:n.1036-1822C>A (GATAD1)
XR_927495.1:n.1036-665C>A (GATAD1)
XR_927496.1:n.1041-1822C>A (GATAD1)
XR_927497.1:n.1036-665C>A (GATAD1)
XR_927498.1:n.1124-1822C>A (GATAD1)
XR_927500.1:n.1033-1822C>A (GATAD1)
XR_927502.1:n.1033-665C>A (GATAD1)
XR_927503.1:n.967-1822C>A (GATAD1)
XM_017012319.2:c.1890G>T (PEX1)	XP_016867808.1:p.Glu630Asp
XR_001744808.2:n.2661G>T (PEX1)
XR_001744842.2:n.2281-1822C>A (GATAD1)
XR_001744843.2:n.2212-1822C>A (GATAD1)
XR_002956472.1:n.2281-665C>A (GATAD1)
XR_002956473.1:n.2369-1822C>A (GATAD1)
XR_002956474.1:n.2286-1822C>A (GATAD1)
XR_242246.5:n.3681G>T (PEX1)
XR_927494.3:n.1063-1822C>A (GATAD1)
XR_927500.3:n.1060-1822C>A (GATAD1)
XR_927503.3:n.994-1822C>A (GATAD1)
NM_000466.3:c.3639G>T (PEX1) MANE Select	NP_000457.1:p.Glu1213Asp
NM_001282677.2:c.3468G>T (PEX1)	NP_001269606.1:p.Glu1156Asp
NM_001282678.2:c.3015G>T (PEX1)	NP_001269607.1:p.Glu1005Asp