Canonical Allele Identifier: CA368181002

Gene: PEX1

Linked Data

• dbSNP Id: rs1461356904
• gnomAD v2: 7-92132360-T-C
• gnomAD v4: 7-92503046-T-C
• MyVariant Identifiers: chr7:g.92132360T>C (hg19) ; chr7:g.92503046T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503046T>C , CM000669.2:g.92503046T>C	GRCh38
NC_000007.13:g.92132360T>C , CM000669.1:g.92132360T>C	GRCh37
NC_000007.12:g.91970296T>C	NCBI36
NG_008341.1:g.30486A>G
NG_008341.2:g.30486A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2221A>G MANE Select	ENSP00000248633.4:p.Asn741Asp
ENST00000248633.8:c.2221A>G	ENSP00000248633.4:p.Asn741Asp
ENST00000428214.5:c.2050A>G	ENSP00000394413.1:p.Asn684Asp
ENST00000438045.5:c.1255A>G	ENSP00000410438.1:p.Asn419Asp
ENST00000484913.5:n.2260A>G
ENST00000496092.1:n.19A>G
ENST00000496420.5:n.1897A>G
NM_000466.2:c.2221A>G	NP_000457.1:p.Asn741Asp
NM_001282677.1:c.2050A>G	NP_001269606.1:p.Asn684Asp
NM_001282678.1:c.1597A>G	NP_001269607.1:p.Asn533Asp
XM_005250433.3:c.472A>G	XP_005250490.1:p.Asn158Asp
XR_242246.3:n.2317A>G
XM_017012319.2:c.472A>G	XP_016867808.1:p.Asn158Asp
XR_001744808.2:n.1248A>G
XR_242246.5:n.2268A>G
NM_000466.3:c.2221A>G MANE Select	NP_000457.1:p.Asn741Asp
NM_001282677.2:c.2050A>G	NP_001269606.1:p.Asn684Asp
NM_001282678.2:c.1597A>G	NP_001269607.1:p.Asn533Asp