Canonical Allele Identifier: CA4341476

Gene: PEX1

Linked Data

• dbSNP Id: rs769902926
• ExAC: 7:92146646 T / G
• gnomAD v2: 7-92146646-T-G
• MyVariant Identifiers: chr7:g.92146646T>G (hg19) ; chr7:g.92517332T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517332T>G , CM000669.2:g.92517332T>G	GRCh38
NC_000007.13:g.92146646T>G , CM000669.1:g.92146646T>G	GRCh37
NC_000007.12:g.91984582T>G	NCBI36
NG_008341.1:g.16200A>C
NG_008341.2:g.16200A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1183A>C MANE Select	ENSP00000248633.4:p.Asn395His
ENST00000248633.8:c.1183A>C	ENSP00000248633.4:p.Asn395His
ENST00000422866.1:c.84A>C
ENST00000428214.5:c.1183A>C	ENSP00000394413.1:p.Asn395His
ENST00000438045.5:c.274-3365A>C	ENSP00000410438.1:n.274-3365A>C
ENST00000484913.5:n.1222A>C
NM_000466.2:c.1183A>C	NP_000457.1:p.Asn395His
NM_001282677.1:c.1183A>C	NP_001269606.1:p.Asn395His
NM_001282678.1:c.559A>C	NP_001269607.1:p.Asn187His
XR_242246.3:n.1279A>C
XM_017012319.2:c.-484A>C	XP_016867808.1:n.-484A>C
XR_001744808.2:n.293A>C
XR_242246.5:n.1230A>C
NM_000466.3:c.1183A>C MANE Select	NP_000457.1:p.Asn395His
NM_001282677.2:c.1183A>C	NP_001269606.1:p.Asn395His
NM_001282678.2:c.559A>C	NP_001269607.1:p.Asn187His