Canonical Allele Identifier: CA2499219052

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1117202
• ClinVar RCV Id: RCV001445863
• dbSNP Id: rs2116149447

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502083A>G , CM000669.2:g.92502083A>G	GRCh38
NC_000007.13:g.92131397A>G , CM000669.1:g.92131397A>G	GRCh37
NC_000007.12:g.91969333A>G	NCBI36
NG_008341.1:g.31449T>C
NG_008341.2:g.31449T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-4T>C MANE Select	ENSP00000248633.4:n.2227-4T>C
ENST00000248633.8:c.2227-4T>C	ENSP00000248633.4:n.2227-4T>C
ENST00000428214.5:c.2056-4T>C	ENSP00000394413.1:n.2056-4T>C
ENST00000438045.5:c.1261-4T>C	ENSP00000410438.1:n.1261-4T>C
ENST00000484913.5:n.2266-4T>C
ENST00000496092.1:n.25-4T>C
ENST00000496420.5:n.1903-4T>C
NM_000466.2:c.2227-4T>C	NP_000457.1:n.2227-4T>C
NM_001282677.1:c.2056-4T>C	NP_001269606.1:n.2056-4T>C
NM_001282678.1:c.1603-4T>C	NP_001269607.1:n.1603-4T>C
XM_005250433.3:c.478-4T>C	XP_005250490.1:n.478-4T>C
XR_242246.3:n.2323-4T>C
XM_017012319.2:c.478-4T>C	XP_016867808.1:n.478-4T>C
XR_001744808.2:n.1254-4T>C
XR_242246.5:n.2274-4T>C
NM_000466.3:c.2227-4T>C MANE Select	NP_000457.1:n.2227-4T>C
NM_001282677.2:c.2056-4T>C	NP_001269606.1:n.2056-4T>C
NM_001282678.2:c.1603-4T>C	NP_001269607.1:n.1603-4T>C