Canonical Allele Identifier: CA368167494

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92494343-G-C
• MyVariant Identifiers: chr7:g.92123657G>C (hg19) ; chr7:g.92494343G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494343G>C , CM000669.2:g.92494343G>C	GRCh38
NC_000007.13:g.92123657G>C , CM000669.1:g.92123657G>C	GRCh37
NC_000007.12:g.91961593G>C	NCBI36
NG_008341.1:g.39189C>G
NG_008341.2:g.39189C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2980C>G (PEX1) MANE Select	ENSP00000248633.4:p.Leu994Val
ENST00000248633.8:c.2980C>G (PEX1)	ENSP00000248633.4:p.Leu994Val
ENST00000428214.5:c.2809C>G (PEX1)	ENSP00000394413.1:p.Leu937Val
ENST00000438045.5:c.2014C>G (PEX1)	ENSP00000410438.1:p.Leu672Val
ENST00000484913.5:n.3019C>G (PEX1)
ENST00000496420.5:n.2872C>G (PEX1)
NM_000466.2:c.2980C>G (PEX1)	NP_000457.1:p.Leu994Val
NM_001282677.1:c.2809C>G (PEX1)	NP_001269606.1:p.Leu937Val
NM_001282678.1:c.2356C>G (PEX1)	NP_001269607.1:p.Leu786Val
XM_005250433.3:c.1231C>G (PEX1)	XP_005250490.1:p.Leu411Val
XR_242246.3:n.3076C>G (PEX1)
XM_017012319.2:c.1231C>G (PEX1)	XP_016867808.1:p.Leu411Val
XR_001744808.2:n.2007C>G (PEX1)
XR_001744843.2:n.5312G>C (GATAD1)
XR_242246.5:n.3027C>G (PEX1)
XR_927494.3:n.4163G>C (GATAD1)
XR_927503.3:n.4094G>C (GATAD1)
NM_000466.3:c.2980C>G (PEX1) MANE Select	NP_000457.1:p.Leu994Val
NM_001282677.2:c.2809C>G (PEX1)	NP_001269606.1:p.Leu937Val
NM_001282678.2:c.2356C>G (PEX1)	NP_001269607.1:p.Leu786Val