Canonical Allele Identifier: CA368203301

Gene: PEX1

Linked Data

• gnomAD v4: 7-92519069-T-C
• MyVariant Identifiers: chr7:g.92148383T>C (hg19) ; chr7:g.92519069T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519069T>C , CM000669.2:g.92519069T>C	GRCh38
NC_000007.13:g.92148383T>C , CM000669.1:g.92148383T>C	GRCh37
NC_000007.12:g.91986319T>C	NCBI36
NG_008341.1:g.14463A>G
NG_008341.2:g.14463A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.283A>G MANE Select	ENSP00000248633.4:p.Lys95Glu
ENST00000248633.8:c.283A>G	ENSP00000248633.4:p.Lys95Glu
ENST00000428214.5:c.283A>G	ENSP00000394413.1:p.Lys95Glu
ENST00000438045.5:c.273+3033A>G	ENSP00000410438.1:n.273+3033A>G
ENST00000484913.5:n.287A>G
NM_000466.2:c.283A>G	NP_000457.1:p.Lys95Glu
NM_001282677.1:c.283A>G	NP_001269606.1:p.Lys95Glu
NM_001282678.1:c.-377A>G	NP_001269607.1:n.-377A>G
XR_242246.3:n.379A>G
XR_242246.5:n.330A>G
NM_000466.3:c.283A>G MANE Select	NP_000457.1:p.Lys95Glu
NM_001282677.2:c.283A>G	NP_001269606.1:p.Lys95Glu
NM_001282678.2:c.-377A>G	NP_001269607.1:n.-377A>G