Canonical Allele Identifier: CA368197921

Gene: PEX1

Linked Data

• dbSNP Id: rs2116243183
• MyVariant Identifiers: chr7:g.92146705T>C (hg19) ; chr7:g.92517391T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517391T>C , CM000669.2:g.92517391T>C	GRCh38
NC_000007.13:g.92146705T>C , CM000669.1:g.92146705T>C	GRCh37
NC_000007.12:g.91984641T>C	NCBI36
NG_008341.1:g.16141A>G
NG_008341.2:g.16141A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1124A>G MANE Select	ENSP00000248633.4:p.Asn375Ser
ENST00000248633.8:c.1124A>G	ENSP00000248633.4:p.Asn375Ser
ENST00000422866.1:c.25A>G
ENST00000428214.5:c.1124A>G	ENSP00000394413.1:p.Asn375Ser
ENST00000438045.5:c.274-3424A>G	ENSP00000410438.1:n.274-3424A>G
ENST00000484913.5:n.1163A>G
NM_000466.2:c.1124A>G	NP_000457.1:p.Asn375Ser
NM_001282677.1:c.1124A>G	NP_001269606.1:p.Asn375Ser
NM_001282678.1:c.500A>G	NP_001269607.1:p.Asn167Ser
XR_242246.3:n.1220A>G
XM_017012319.2:c.-543A>G	XP_016867808.1:n.-543A>G
XR_001744808.2:n.234A>G
XR_242246.5:n.1171A>G
NM_000466.3:c.1124A>G MANE Select	NP_000457.1:p.Asn375Ser
NM_001282677.2:c.1124A>G	NP_001269606.1:p.Asn375Ser
NM_001282678.2:c.500A>G	NP_001269607.1:p.Asn167Ser