Canonical Allele Identifier: CA368163763

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791302028
• gnomAD v3: 7-92491346-T-C
• gnomAD v4: 7-92491346-T-C
• MyVariant Identifiers: chr7:g.92120660T>C (hg19) ; chr7:g.92491346T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491346T>C , CM000669.2:g.92491346T>C	GRCh38
NC_000007.13:g.92120660T>C , CM000669.1:g.92120660T>C	GRCh37
NC_000007.12:g.91958596T>C	NCBI36
NG_008341.1:g.42186A>G
NG_008341.2:g.42186A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3364A>G (PEX1) MANE Select	ENSP00000248633.4:p.Lys1122Glu
ENST00000248633.8:c.3364A>G (PEX1)	ENSP00000248633.4:p.Lys1122Glu
ENST00000428214.5:c.3193A>G (PEX1)	ENSP00000394413.1:p.Lys1065Glu
ENST00000438045.5:c.2398A>G (PEX1)	ENSP00000410438.1:p.Lys800Glu
ENST00000484913.5:n.3403A>G (PEX1)
ENST00000496420.5:n.4419A>G (PEX1)
NM_000466.2:c.3364A>G (PEX1)	NP_000457.1:p.Lys1122Glu
NM_001282677.1:c.3193A>G (PEX1)	NP_001269606.1:p.Lys1065Glu
NM_001282678.1:c.2740A>G (PEX1)	NP_001269607.1:p.Lys914Glu
XM_005250433.3:c.1615A>G (PEX1)	XP_005250490.1:p.Lys539Glu
XR_242246.3:n.3460A>G (PEX1)
XM_017012319.2:c.1615A>G (PEX1)	XP_016867808.1:p.Lys539Glu
XR_001744808.2:n.2391A>G (PEX1)
XR_001744842.2:n.2384T>C (GATAD1)
XR_001744843.2:n.2315T>C (GATAD1)
XR_002956472.1:n.2441T>C (GATAD1)
XR_002956473.1:n.2472T>C (GATAD1)
XR_002956474.1:n.2389T>C (GATAD1)
XR_242246.5:n.3411A>G (PEX1)
XR_927494.3:n.1166T>C (GATAD1)
XR_927500.3:n.1163T>C (GATAD1)
XR_927503.3:n.1097T>C (GATAD1)
NM_000466.3:c.3364A>G (PEX1) MANE Select	NP_000457.1:p.Lys1122Glu
NM_001282677.2:c.3193A>G (PEX1)	NP_001269606.1:p.Lys1065Glu
NM_001282678.2:c.2740A>G (PEX1)	NP_001269607.1:p.Lys914Glu