Canonical Allele Identifier: CA368190203

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2039422
• ClinVar RCV Id: RCV002899881
• MyVariant Identifiers: chr7:g.92140319T>G (hg19) ; chr7:g.92511005T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511005T>G , CM000669.2:g.92511005T>G	GRCh38
NC_000007.13:g.92140319T>G , CM000669.1:g.92140319T>G	GRCh37
NC_000007.12:g.91978255T>G	NCBI36
NG_008341.1:g.22527A>C
NG_008341.2:g.22527A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1526A>C MANE Select	ENSP00000248633.4:p.Lys509Thr
ENST00000248633.8:c.1526A>C	ENSP00000248633.4:p.Lys509Thr
ENST00000422866.1:c.427A>C
ENST00000428214.5:c.1526A>C	ENSP00000394413.1:p.Lys509Thr
ENST00000438045.5:c.560A>C	ENSP00000410438.1:p.Lys187Thr
ENST00000476923.1:n.287A>C
ENST00000484913.5:n.1565A>C
NM_000466.2:c.1526A>C	NP_000457.1:p.Lys509Thr
NM_001282677.1:c.1526A>C	NP_001269606.1:p.Lys509Thr
NM_001282678.1:c.902A>C	NP_001269607.1:p.Lys301Thr
XM_005250433.3:c.-141A>C	XP_005250490.1:n.-141A>C
XR_242246.3:n.1622A>C
XM_017012319.2:c.-141A>C	XP_016867808.1:n.-141A>C
XR_001744808.2:n.636A>C
XR_242246.5:n.1573A>C
NM_000466.3:c.1526A>C MANE Select	NP_000457.1:p.Lys509Thr
NM_001282677.2:c.1526A>C	NP_001269606.1:p.Lys509Thr
NM_001282678.2:c.902A>C	NP_001269607.1:p.Lys301Thr