Canonical Allele Identifier: CA4341274

Gene: PEX1

Linked Data

• dbSNP Id: rs771869127
• ExAC: 7:92135577 A / G
• gnomAD v2: 7-92135577-A-G
• gnomAD v4: 7-92506263-A-G
• MyVariant Identifiers: chr7:g.92135577A>G (hg19) ; chr7:g.92506263A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506263A>G , CM000669.2:g.92506263A>G	GRCh38
NC_000007.13:g.92135577A>G , CM000669.1:g.92135577A>G	GRCh37
NC_000007.12:g.91973513A>G	NCBI36
NG_008341.1:g.27269T>C
NG_008341.2:g.27269T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1885T>C MANE Select	ENSP00000248633.4:p.Cys629Arg
ENST00000248633.8:c.1885T>C	ENSP00000248633.4:p.Cys629Arg
ENST00000422866.1:c.703T>C
ENST00000428214.5:c.1885T>C	ENSP00000394413.1:p.Cys629Arg
ENST00000438045.5:c.919T>C	ENSP00000410438.1:p.Cys307Arg
ENST00000484913.5:n.1924T>C
ENST00000496420.5:n.1561T>C
NM_000466.2:c.1885T>C	NP_000457.1:p.Cys629Arg
NM_001282677.1:c.1885T>C	NP_001269606.1:p.Cys629Arg
NM_001282678.1:c.1261T>C	NP_001269607.1:p.Cys421Arg
XM_005250433.3:c.136T>C	XP_005250490.1:p.Cys46Arg
XR_242246.3:n.1981T>C
XM_017012319.2:c.136T>C	XP_016867808.1:p.Cys46Arg
XR_001744808.2:n.912T>C
XR_242246.5:n.1932T>C
NM_000466.3:c.1885T>C MANE Select	NP_000457.1:p.Cys629Arg
NM_001282677.2:c.1885T>C	NP_001269606.1:p.Cys629Arg
NM_001282678.2:c.1261T>C	NP_001269607.1:p.Cys421Arg