Canonical Allele Identifier: CA368177921

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1475291
• ClinVar RCV Id: RCV001976127
• dbSNP Id: rs1791952164
• MyVariant Identifiers: chr7:g.92131308T>C (hg19) ; chr7:g.92501994T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501994T>C , CM000669.2:g.92501994T>C	GRCh38
NC_000007.13:g.92131308T>C , CM000669.1:g.92131308T>C	GRCh37
NC_000007.12:g.91969244T>C	NCBI36
NG_008341.1:g.31538A>G
NG_008341.2:g.31538A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2312A>G MANE Select	ENSP00000248633.4:p.His771Arg
ENST00000248633.8:c.2312A>G	ENSP00000248633.4:p.His771Arg
ENST00000428214.5:c.2141A>G	ENSP00000394413.1:p.His714Arg
ENST00000438045.5:c.1346A>G	ENSP00000410438.1:p.His449Arg
ENST00000484913.5:n.2351A>G
ENST00000496092.1:n.110A>G
ENST00000496420.5:n.1988A>G
NM_000466.2:c.2312A>G	NP_000457.1:p.His771Arg
NM_001282677.1:c.2141A>G	NP_001269606.1:p.His714Arg
NM_001282678.1:c.1688A>G	NP_001269607.1:p.His563Arg
XM_005250433.3:c.563A>G	XP_005250490.1:p.His188Arg
XR_242246.3:n.2408A>G
XM_017012319.2:c.563A>G	XP_016867808.1:p.His188Arg
XR_001744808.2:n.1339A>G
XR_242246.5:n.2359A>G
NM_000466.3:c.2312A>G MANE Select	NP_000457.1:p.His771Arg
NM_001282677.2:c.2141A>G	NP_001269606.1:p.His714Arg
NM_001282678.2:c.1688A>G	NP_001269607.1:p.His563Arg