Canonical Allele Identifier: CA368178662

Gene: PEX1

Linked Data

• dbSNP Id: rs1277206111
• gnomAD v2: 7-92131372-A-G
• gnomAD v4: 7-92502058-A-G
• MyVariant Identifiers: chr7:g.92131372A>G (hg19) ; chr7:g.92502058A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502058A>G , CM000669.2:g.92502058A>G	GRCh38
NC_000007.13:g.92131372A>G , CM000669.1:g.92131372A>G	GRCh37
NC_000007.12:g.91969308A>G	NCBI36
NG_008341.1:g.31474T>C
NG_008341.2:g.31474T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2248T>C MANE Select	ENSP00000248633.4:p.Cys750Arg
ENST00000248633.8:c.2248T>C	ENSP00000248633.4:p.Cys750Arg
ENST00000428214.5:c.2077T>C	ENSP00000394413.1:p.Cys693Arg
ENST00000438045.5:c.1282T>C	ENSP00000410438.1:p.Cys428Arg
ENST00000484913.5:n.2287T>C
ENST00000496092.1:n.46T>C
ENST00000496420.5:n.1924T>C
NM_000466.2:c.2248T>C	NP_000457.1:p.Cys750Arg
NM_001282677.1:c.2077T>C	NP_001269606.1:p.Cys693Arg
NM_001282678.1:c.1624T>C	NP_001269607.1:p.Cys542Arg
XM_005250433.3:c.499T>C	XP_005250490.1:p.Cys167Arg
XR_242246.3:n.2344T>C
XM_017012319.2:c.499T>C	XP_016867808.1:p.Cys167Arg
XR_001744808.2:n.1275T>C
XR_242246.5:n.2295T>C
NM_000466.3:c.2248T>C MANE Select	NP_000457.1:p.Cys750Arg
NM_001282677.2:c.2077T>C	NP_001269606.1:p.Cys693Arg
NM_001282678.2:c.1624T>C	NP_001269607.1:p.Cys542Arg