Canonical Allele Identifier: CA368164247

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92491420-G-C
• MyVariant Identifiers: chr7:g.92120734G>C (hg19) ; chr7:g.92491420G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491420G>C , CM000669.2:g.92491420G>C	GRCh38
NC_000007.13:g.92120734G>C , CM000669.1:g.92120734G>C	GRCh37
NC_000007.12:g.91958670G>C	NCBI36
NG_008341.1:g.42112C>G
NG_008341.2:g.42112C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3290C>G (PEX1) MANE Select	ENSP00000248633.4:p.Ala1097Gly
ENST00000248633.8:c.3290C>G (PEX1)	ENSP00000248633.4:p.Ala1097Gly
ENST00000428214.5:c.3119C>G (PEX1)	ENSP00000394413.1:p.Ala1040Gly
ENST00000438045.5:c.2324C>G (PEX1)	ENSP00000410438.1:p.Ala775Gly
ENST00000484913.5:n.3329C>G (PEX1)
ENST00000496420.5:n.4345C>G (PEX1)
NM_000466.2:c.3290C>G (PEX1)	NP_000457.1:p.Ala1097Gly
NM_001282677.1:c.3119C>G (PEX1)	NP_001269606.1:p.Ala1040Gly
NM_001282678.1:c.2666C>G (PEX1)	NP_001269607.1:p.Ala889Gly
XM_005250433.3:c.1541C>G (PEX1)	XP_005250490.1:p.Ala514Gly
XR_242246.3:n.3386C>G (PEX1)
XM_017012319.2:c.1541C>G (PEX1)	XP_016867808.1:p.Ala514Gly
XR_001744808.2:n.2317C>G (PEX1)
XR_001744842.2:n.2458G>C (GATAD1)
XR_001744843.2:n.2389G>C (GATAD1)
XR_002956472.1:n.2515G>C (GATAD1)
XR_002956473.1:n.2546G>C (GATAD1)
XR_002956474.1:n.2463G>C (GATAD1)
XR_242246.5:n.3337C>G (PEX1)
XR_927494.3:n.1240G>C (GATAD1)
XR_927500.3:n.1237G>C (GATAD1)
XR_927503.3:n.1171G>C (GATAD1)
NM_000466.3:c.3290C>G (PEX1) MANE Select	NP_000457.1:p.Ala1097Gly
NM_001282677.2:c.3119C>G (PEX1)	NP_001269606.1:p.Ala1040Gly
NM_001282678.2:c.2666C>G (PEX1)	NP_001269607.1:p.Ala889Gly