Canonical Allele Identifier: CA368192270

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92513847C>G , CM000669.2:g.92513847C>G	GRCh38
NC_000007.13:g.92143161C>G , CM000669.1:g.92143161C>G	GRCh37
NC_000007.12:g.91981097C>G	NCBI36
NG_008341.1:g.19685G>C
NG_008341.2:g.19685G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.1359+1G>C MANE Select	NP_000457.1:n.1359+1G>C
ENST00000248633.9:c.1359+1G>C MANE Select	ENSP00000248633.4:n.1359+1G>C
NM_000466.2:c.1359+1G>C	NP_000457.1:n.1359+1G>C
NM_001282677.1:c.1359+1G>C	NP_001269606.1:n.1359+1G>C
NM_001282677.2:c.1359+1G>C	NP_001269606.1:n.1359+1G>C
NM_001282678.1:c.735+1G>C	NP_001269607.1:n.735+1G>C
NM_001282678.2:c.735+1G>C	NP_001269607.1:n.735+1G>C
ENST00000248633.8:c.1359+1G>C	ENSP00000248633.4:n.1359+1G>C
ENST00000422866.1:c.260+1G>C
ENST00000428214.5:c.1359+1G>C	ENSP00000394413.1:n.1359+1G>C
ENST00000438045.5:c.393+1G>C	ENSP00000410438.1:n.393+1G>C
ENST00000476923.1:n.120+1G>C
ENST00000484913.5:n.1398+1G>C
XM_005250433.3:c.-308+1G>C	XP_005250490.1:n.-308+1G>C
XM_017012319.2:c.-308+1G>C	XP_016867808.1:n.-308+1G>C
XR_001744808.2:n.469+1G>C
XR_242246.3:n.1455+1G>C
XR_242246.5:n.1406+1G>C