Canonical Allele Identifier: CA368164384

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791313119
• MyVariant Identifiers: chr7:g.92120746G>A (hg19) ; chr7:g.92491432G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491432G>A , CM000669.2:g.92491432G>A	GRCh38
NC_000007.13:g.92120746G>A , CM000669.1:g.92120746G>A	GRCh37
NC_000007.12:g.91958682G>A	NCBI36
NG_008341.1:g.42100C>T
NG_008341.2:g.42100C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3278C>T (PEX1) MANE Select	ENSP00000248633.4:p.Ser1093Phe
ENST00000248633.8:c.3278C>T (PEX1)	ENSP00000248633.4:p.Ser1093Phe
ENST00000428214.5:c.3107C>T (PEX1)	ENSP00000394413.1:p.Ser1036Phe
ENST00000438045.5:c.2312C>T (PEX1)	ENSP00000410438.1:p.Ser771Phe
ENST00000484913.5:n.3317C>T (PEX1)
ENST00000496420.5:n.4333C>T (PEX1)
NM_000466.2:c.3278C>T (PEX1)	NP_000457.1:p.Ser1093Phe
NM_001282677.1:c.3107C>T (PEX1)	NP_001269606.1:p.Ser1036Phe
NM_001282678.1:c.2654C>T (PEX1)	NP_001269607.1:p.Ser885Phe
XM_005250433.3:c.1529C>T (PEX1)	XP_005250490.1:p.Ser510Phe
XR_242246.3:n.3374C>T (PEX1)
XM_017012319.2:c.1529C>T (PEX1)	XP_016867808.1:p.Ser510Phe
XR_001744808.2:n.2305C>T (PEX1)
XR_001744842.2:n.2470G>A (GATAD1)
XR_001744843.2:n.2401G>A (GATAD1)
XR_002956472.1:n.2527G>A (GATAD1)
XR_002956473.1:n.2558G>A (GATAD1)
XR_002956474.1:n.2475G>A (GATAD1)
XR_242246.5:n.3325C>T (PEX1)
XR_927494.3:n.1252G>A (GATAD1)
XR_927500.3:n.1249G>A (GATAD1)
XR_927503.3:n.1183G>A (GATAD1)
NM_000466.3:c.3278C>T (PEX1) MANE Select	NP_000457.1:p.Ser1093Phe
NM_001282677.2:c.3107C>T (PEX1)	NP_001269606.1:p.Ser1036Phe
NM_001282678.2:c.2654C>T (PEX1)	NP_001269607.1:p.Ser885Phe