Canonical Allele Identifier: CA368188214

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1362213
• ClinVar RCV Id: RCV001900071
• dbSNP Id: rs1792345170
• gnomAD v4: 7-92509331-C-G
• MyVariant Identifiers: chr7:g.92138645C>G (hg19) ; chr7:g.92509331C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92509331C>G , CM000669.2:g.92509331C>G	GRCh38
NC_000007.13:g.92138645C>G , CM000669.1:g.92138645C>G	GRCh37
NC_000007.12:g.91976581C>G	NCBI36
NG_008341.1:g.24201G>C
NG_008341.2:g.24201G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1668G>C MANE Select	ENSP00000248633.4:p.Leu556Phe
ENST00000248633.8:c.1668G>C	ENSP00000248633.4:p.Leu556Phe
ENST00000422866.1:c.488+1613G>C
ENST00000428214.5:c.1668G>C	ENSP00000394413.1:p.Leu556Phe
ENST00000438045.5:c.702G>C	ENSP00000410438.1:p.Leu234Phe
ENST00000484913.5:n.1707G>C
NM_000466.2:c.1668G>C	NP_000457.1:p.Leu556Phe
NM_001282677.1:c.1668G>C	NP_001269606.1:p.Leu556Phe
NM_001282678.1:c.1044G>C	NP_001269607.1:p.Leu348Phe
XM_005250433.3:c.-80+1613G>C	XP_005250490.1:n.-80+1613G>C
XR_242246.3:n.1764G>C
XM_017012319.2:c.-80+1613G>C	XP_016867808.1:n.-80+1613G>C
XR_001744808.2:n.697+1613G>C
XR_242246.5:n.1715G>C
NM_000466.3:c.1668G>C MANE Select	NP_000457.1:p.Leu556Phe
NM_001282677.2:c.1668G>C	NP_001269606.1:p.Leu556Phe
NM_001282678.2:c.1044G>C	NP_001269607.1:p.Leu348Phe