Canonical Allele Identifier: CA456623838

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1344042611
• gnomAD v2: 7-92120631-T-G
• gnomAD v4: 7-92491317-T-G
• MyVariant Identifiers: chr7:g.92120631T>G (hg19) ; chr7:g.92491317T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491317T>G , CM000669.2:g.92491317T>G	GRCh38
NC_000007.13:g.92120631T>G , CM000669.1:g.92120631T>G	GRCh37
NC_000007.12:g.91958567T>G	NCBI36
NG_008341.1:g.42215A>C
NG_008341.2:g.42215A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3393A>C (PEX1) MANE Select	ENSP00000248633.4:p.Gly1131=
ENST00000248633.8:c.3393A>C (PEX1)	ENSP00000248633.4:p.Gly1131=
ENST00000428214.5:c.3222A>C (PEX1)	ENSP00000394413.1:p.Gly1074=
ENST00000438045.5:c.2427A>C (PEX1)	ENSP00000410438.1:p.Gly809=
ENST00000484913.5:n.3432A>C (PEX1)
ENST00000496420.5:n.4448A>C (PEX1)
NM_000466.2:c.3393A>C (PEX1)	NP_000457.1:p.Gly1131=
NM_001282677.1:c.3222A>C (PEX1)	NP_001269606.1:p.Gly1074=
NM_001282678.1:c.2769A>C (PEX1)	NP_001269607.1:p.Gly923=
XM_005250433.3:c.1644A>C (PEX1)	XP_005250490.1:p.Gly548=
XR_242246.3:n.3489A>C (PEX1)
XR_927494.1:n.1110T>G (GATAD1)
XR_927496.1:n.1115T>G (GATAD1)
XR_927497.1:n.1167T>G (GATAD1)
XR_927498.1:n.1198T>G (GATAD1)
XR_927500.1:n.1107T>G (GATAD1)
XR_927503.1:n.1041T>G (GATAD1)
XM_017012319.2:c.1644A>C (PEX1)	XP_016867808.1:p.Gly548=
XR_001744808.2:n.2420A>C (PEX1)
XR_001744842.2:n.2355T>G (GATAD1)
XR_001744843.2:n.2286T>G (GATAD1)
XR_002956472.1:n.2412T>G (GATAD1)
XR_002956473.1:n.2443T>G (GATAD1)
XR_002956474.1:n.2360T>G (GATAD1)
XR_242246.5:n.3440A>C (PEX1)
XR_927494.3:n.1137T>G (GATAD1)
XR_927500.3:n.1134T>G (GATAD1)
XR_927503.3:n.1068T>G (GATAD1)
NM_000466.3:c.3393A>C (PEX1) MANE Select	NP_000457.1:p.Gly1131=
NM_001282677.2:c.3222A>C (PEX1)	NP_001269606.1:p.Gly1074=
NM_001282678.2:c.2769A>C (PEX1)	NP_001269607.1:p.Gly923=