Canonical Allele Identifier: CA4341374

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1575527
• ClinVar RCV Id: RCV002075213
• dbSNP Id: rs145471560
• ExAC: 7:92140279 C / G
• gnomAD v2: 7-92140279-C-G
• gnomAD v3: 7-92510965-C-G
• gnomAD v4: 7-92510965-C-G
• MyVariant Identifiers: chr7:g.92140279C>G (hg19) ; chr7:g.92510965C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510965C>G , CM000669.2:g.92510965C>G	GRCh38
NC_000007.13:g.92140279C>G , CM000669.1:g.92140279C>G	GRCh37
NC_000007.12:g.91978215C>G	NCBI36
NG_008341.1:g.22567G>C
NG_008341.2:g.22567G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1566G>C MANE Select	ENSP00000248633.4:p.Leu522Phe
ENST00000248633.8:c.1566G>C	ENSP00000248633.4:p.Leu522Phe
ENST00000422866.1:c.467G>C
ENST00000428214.5:c.1566G>C	ENSP00000394413.1:p.Leu522Phe
ENST00000438045.5:c.600G>C	ENSP00000410438.1:p.Leu200Phe
ENST00000476923.1:n.327G>C
ENST00000484913.5:n.1605G>C
NM_000466.2:c.1566G>C	NP_000457.1:p.Leu522Phe
NM_001282677.1:c.1566G>C	NP_001269606.1:p.Leu522Phe
NM_001282678.1:c.942G>C	NP_001269607.1:p.Leu314Phe
XM_005250433.3:c.-101G>C	XP_005250490.1:n.-101G>C
XR_242246.3:n.1662G>C
XM_017012319.2:c.-101G>C	XP_016867808.1:n.-101G>C
XR_001744808.2:n.676G>C
XR_242246.5:n.1613G>C
NM_000466.3:c.1566G>C MANE Select	NP_000457.1:p.Leu522Phe
NM_001282677.2:c.1566G>C	NP_001269606.1:p.Leu522Phe
NM_001282678.2:c.942G>C	NP_001269607.1:p.Leu314Phe