Canonical Allele Identifier: CA368164322

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs753699011
• gnomAD v3: 7-92491427-C-G
• gnomAD v4: 7-92491427-C-G
• MyVariant Identifiers: chr7:g.92120741C>G (hg19) ; chr7:g.92491427C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491427C>G , CM000669.2:g.92491427C>G	GRCh38
NC_000007.13:g.92120741C>G , CM000669.1:g.92120741C>G	GRCh37
NC_000007.12:g.91958677C>G	NCBI36
NG_008341.1:g.42105G>C
NG_008341.2:g.42105G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3283G>C (PEX1) MANE Select	ENSP00000248633.4:p.Asp1095His
ENST00000248633.8:c.3283G>C (PEX1)	ENSP00000248633.4:p.Asp1095His
ENST00000428214.5:c.3112G>C (PEX1)	ENSP00000394413.1:p.Asp1038His
ENST00000438045.5:c.2317G>C (PEX1)	ENSP00000410438.1:p.Asp773His
ENST00000484913.5:n.3322G>C (PEX1)
ENST00000496420.5:n.4338G>C (PEX1)
NM_000466.2:c.3283G>C (PEX1)	NP_000457.1:p.Asp1095His
NM_001282677.1:c.3112G>C (PEX1)	NP_001269606.1:p.Asp1038His
NM_001282678.1:c.2659G>C (PEX1)	NP_001269607.1:p.Asp887His
XM_005250433.3:c.1534G>C (PEX1)	XP_005250490.1:p.Asp512His
XR_242246.3:n.3379G>C (PEX1)
XM_017012319.2:c.1534G>C (PEX1)	XP_016867808.1:p.Asp512His
XR_001744808.2:n.2310G>C (PEX1)
XR_001744842.2:n.2465C>G (GATAD1)
XR_001744843.2:n.2396C>G (GATAD1)
XR_002956472.1:n.2522C>G (GATAD1)
XR_002956473.1:n.2553C>G (GATAD1)
XR_002956474.1:n.2470C>G (GATAD1)
XR_242246.5:n.3330G>C (PEX1)
XR_927494.3:n.1247C>G (GATAD1)
XR_927500.3:n.1244C>G (GATAD1)
XR_927503.3:n.1178C>G (GATAD1)
NM_000466.3:c.3283G>C (PEX1) MANE Select	NP_000457.1:p.Asp1095His
NM_001282677.2:c.3112G>C (PEX1)	NP_001269606.1:p.Asp1038His
NM_001282678.2:c.2659G>C (PEX1)	NP_001269607.1:p.Asp887His