Canonical Allele Identifier: CA4341160

Gene: PEX1

Linked Data

• dbSNP Id: rs755784540
• ExAC: 7:92131331 C / G
• gnomAD v2: 7-92131331-C-G
• gnomAD v4: 7-92502017-C-G
• MyVariant Identifiers: chr7:g.92131331C>G (hg19) ; chr7:g.92502017C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502017C>G , CM000669.2:g.92502017C>G	GRCh38
NC_000007.13:g.92131331C>G , CM000669.1:g.92131331C>G	GRCh37
NC_000007.12:g.91969267C>G	NCBI36
NG_008341.1:g.31515G>C
NG_008341.2:g.31515G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2289G>C MANE Select	ENSP00000248633.4:p.Lys763Asn
ENST00000248633.8:c.2289G>C	ENSP00000248633.4:p.Lys763Asn
ENST00000428214.5:c.2118G>C	ENSP00000394413.1:p.Lys706Asn
ENST00000438045.5:c.1323G>C	ENSP00000410438.1:p.Lys441Asn
ENST00000484913.5:n.2328G>C
ENST00000496092.1:n.87G>C
ENST00000496420.5:n.1965G>C
NM_000466.2:c.2289G>C	NP_000457.1:p.Lys763Asn
NM_001282677.1:c.2118G>C	NP_001269606.1:p.Lys706Asn
NM_001282678.1:c.1665G>C	NP_001269607.1:p.Lys555Asn
XM_005250433.3:c.540G>C	XP_005250490.1:p.Lys180Asn
XR_242246.3:n.2385G>C
XM_017012319.2:c.540G>C	XP_016867808.1:p.Lys180Asn
XR_001744808.2:n.1316G>C
XR_242246.5:n.2336G>C
NM_000466.3:c.2289G>C MANE Select	NP_000457.1:p.Lys763Asn
NM_001282677.2:c.2118G>C	NP_001269606.1:p.Lys706Asn
NM_001282678.2:c.1665G>C	NP_001269607.1:p.Lys555Asn