Canonical Allele Identifier: CA4341171

Gene: PEX1

Linked Data

• ClinVar Variation Id: 842882
• ClinVar RCV Id: RCV001832433
• dbSNP Id: rs200207576
• ExAC: 7:92131380 T / G
• gnomAD v3: 7-92502066-T-G
• gnomAD v4: 7-92502066-T-G
• MyVariant Identifiers: chr7:g.92131380T>G (hg19) ; chr7:g.92502066T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502066T>G , CM000669.2:g.92502066T>G	GRCh38
NC_000007.13:g.92131380T>G , CM000669.1:g.92131380T>G	GRCh37
NC_000007.12:g.91969316T>G	NCBI36
NG_008341.1:g.31466A>C
NG_008341.2:g.31466A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2240A>C MANE Select	ENSP00000248633.4:p.Glu747Ala
ENST00000248633.8:c.2240A>C	ENSP00000248633.4:p.Glu747Ala
ENST00000428214.5:c.2069A>C	ENSP00000394413.1:p.Glu690Ala
ENST00000438045.5:c.1274A>C	ENSP00000410438.1:p.Glu425Ala
ENST00000484913.5:n.2279A>C
ENST00000496092.1:n.38A>C
ENST00000496420.5:n.1916A>C
NM_000466.2:c.2240A>C	NP_000457.1:p.Glu747Ala
NM_001282677.1:c.2069A>C	NP_001269606.1:p.Glu690Ala
NM_001282678.1:c.1616A>C	NP_001269607.1:p.Glu539Ala
XM_005250433.3:c.491A>C	XP_005250490.1:p.Glu164Ala
XR_242246.3:n.2336A>C
XM_017012319.2:c.491A>C	XP_016867808.1:p.Glu164Ala
XR_001744808.2:n.1267A>C
XR_242246.5:n.2287A>C
NM_000466.3:c.2240A>C MANE Select	NP_000457.1:p.Glu747Ala
NM_001282677.2:c.2069A>C	NP_001269606.1:p.Glu690Ala
NM_001282678.2:c.1616A>C	NP_001269607.1:p.Glu539Ala