Canonical Allele Identifier: CA4340864

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs778247096
• ExAC: 7:92120794 C / T
• gnomAD v2: 7-92120794-C-T
• gnomAD v4: 7-92491480-C-T
• MyVariant Identifiers: chr7:g.92120794C>T (hg19) ; chr7:g.92491480C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491480C>T , CM000669.2:g.92491480C>T	GRCh38
NC_000007.13:g.92120794C>T , CM000669.1:g.92120794C>T	GRCh37
NC_000007.12:g.91958730C>T	NCBI36
NG_008341.1:g.42052G>A
NG_008341.2:g.42052G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3230G>A (PEX1) MANE Select	ENSP00000248633.4:p.Ser1077Asn
ENST00000248633.8:c.3230G>A (PEX1)	ENSP00000248633.4:p.Ser1077Asn
ENST00000428214.5:c.3059G>A (PEX1)	ENSP00000394413.1:p.Ser1020Asn
ENST00000438045.5:c.2264G>A (PEX1)	ENSP00000410438.1:p.Ser755Asn
ENST00000484913.5:n.3269G>A (PEX1)
ENST00000496420.5:n.4285G>A (PEX1)
NM_000466.2:c.3230G>A (PEX1)	NP_000457.1:p.Ser1077Asn
NM_001282677.1:c.3059G>A (PEX1)	NP_001269606.1:p.Ser1020Asn
NM_001282678.1:c.2606G>A (PEX1)	NP_001269607.1:p.Ser869Asn
XM_005250433.3:c.1481G>A (PEX1)	XP_005250490.1:p.Ser494Asn
XR_242246.3:n.3326G>A (PEX1)
XM_017012319.2:c.1481G>A (PEX1)	XP_016867808.1:p.Ser494Asn
XR_001744808.2:n.2257G>A (PEX1)
XR_001744842.2:n.2518C>T (GATAD1)
XR_001744843.2:n.2449C>T (GATAD1)
XR_002956472.1:n.2575C>T (GATAD1)
XR_002956473.1:n.2606C>T (GATAD1)
XR_002956474.1:n.2523C>T (GATAD1)
XR_242246.5:n.3277G>A (PEX1)
XR_927494.3:n.1300C>T (GATAD1)
XR_927500.3:n.1297C>T (GATAD1)
XR_927503.3:n.1231C>T (GATAD1)
NM_000466.3:c.3230G>A (PEX1) MANE Select	NP_000457.1:p.Ser1077Asn
NM_001282677.2:c.3059G>A (PEX1)	NP_001269606.1:p.Ser1020Asn
NM_001282678.2:c.2606G>A (PEX1)	NP_001269607.1:p.Ser869Asn