Canonical Allele Identifier: CA4341517

Gene: PEX1

Linked Data

• dbSNP Id: rs746036111
• ExAC: 7:92146901 A / G
• gnomAD v2: 7-92146901-A-G
• gnomAD v3: 7-92517587-A-G
• gnomAD v4: 7-92517587-A-G
• MyVariant Identifiers: chr7:g.92146901A>G (hg19) ; chr7:g.92517587A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517587A>G , CM000669.2:g.92517587A>G	GRCh38
NC_000007.13:g.92146901A>G , CM000669.1:g.92146901A>G	GRCh37
NC_000007.12:g.91984837A>G	NCBI36
NG_008341.1:g.15945T>C
NG_008341.2:g.15945T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.928T>C MANE Select	ENSP00000248633.4:p.Cys310Arg
ENST00000248633.8:c.928T>C	ENSP00000248633.4:p.Cys310Arg
ENST00000428214.5:c.928T>C	ENSP00000394413.1:p.Cys310Arg
ENST00000438045.5:c.274-3620T>C	ENSP00000410438.1:n.274-3620T>C
ENST00000484913.5:n.967T>C
NM_000466.2:c.928T>C	NP_000457.1:p.Cys310Arg
NM_001282677.1:c.928T>C	NP_001269606.1:p.Cys310Arg
NM_001282678.1:c.304T>C	NP_001269607.1:p.Cys102Arg
XR_242246.3:n.1024T>C
XM_017012319.2:c.-739T>C	XP_016867808.1:n.-739T>C
XR_001744808.2:n.38T>C
XR_242246.5:n.975T>C
NM_000466.3:c.928T>C MANE Select	NP_000457.1:p.Cys310Arg
NM_001282677.2:c.928T>C	NP_001269606.1:p.Cys310Arg
NM_001282678.2:c.304T>C	NP_001269607.1:p.Cys102Arg