Canonical Allele Identifier: CA368204999

Gene: PEX1

Linked Data

• dbSNP Id: rs1793077740
• gnomAD v4: 7-92522181-T-C
• MyVariant Identifiers: chr7:g.92151495T>C (hg19) ; chr7:g.92522181T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522181T>C , CM000669.2:g.92522181T>C	GRCh38
NC_000007.13:g.92151495T>C , CM000669.1:g.92151495T>C	GRCh37
NC_000007.12:g.91989431T>C	NCBI36
NG_008341.1:g.11351A>G
NG_008341.2:g.11351A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.194A>G MANE Select	ENSP00000248633.4:p.His65Arg
ENST00000248633.8:c.194A>G	ENSP00000248633.4:p.His65Arg
ENST00000428214.5:c.194A>G	ENSP00000394413.1:p.His65Arg
ENST00000438045.5:c.194A>G	ENSP00000410438.1:p.His65Arg
ENST00000484913.5:n.198A>G
NM_000466.2:c.194A>G	NP_000457.1:p.His65Arg
NM_001282677.1:c.194A>G	NP_001269606.1:p.His65Arg
NM_001282678.1:c.-466A>G	NP_001269607.1:n.-466A>G
XR_242246.3:n.290A>G
XR_242246.5:n.241A>G
NM_000466.3:c.194A>G MANE Select	NP_000457.1:p.His65Arg
NM_001282677.2:c.194A>G	NP_001269606.1:p.His65Arg
NM_001282678.2:c.-466A>G	NP_001269607.1:n.-466A>G