Canonical Allele Identifier: CA368200677

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1494451
• ClinVar RCV Id: RCV002015009
• dbSNP Id: rs1226753246
• gnomAD v4: 7-92517863-G-C
• MyVariant Identifiers: chr7:g.92147177G>C (hg19) ; chr7:g.92517863G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517863G>C , CM000669.2:g.92517863G>C	GRCh38
NC_000007.13:g.92147177G>C , CM000669.1:g.92147177G>C	GRCh37
NC_000007.12:g.91985113G>C	NCBI36
NG_008341.1:g.15669C>G
NG_008341.2:g.15669C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.652C>G MANE Select	ENSP00000248633.4:p.Leu218Val
ENST00000248633.8:c.652C>G	ENSP00000248633.4:p.Leu218Val
ENST00000428214.5:c.652C>G	ENSP00000394413.1:p.Leu218Val
ENST00000438045.5:c.274-3896C>G	ENSP00000410438.1:n.274-3896C>G
ENST00000484913.5:n.691C>G
NM_000466.2:c.652C>G	NP_000457.1:p.Leu218Val
NM_001282677.1:c.652C>G	NP_001269606.1:p.Leu218Val
NM_001282678.1:c.28C>G	NP_001269607.1:p.Leu10Val
XR_242246.3:n.748C>G
XR_242246.5:n.699C>G
NM_000466.3:c.652C>G MANE Select	NP_000457.1:p.Leu218Val
NM_001282677.2:c.652C>G	NP_001269606.1:p.Leu218Val
NM_001282678.2:c.28C>G	NP_001269607.1:p.Leu10Val