Canonical Allele Identifier: CA2683718550

Gene: PEX1

Linked Data

• gnomAD v4: 7-92503263-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503263A>G , CM000669.2:g.92503263A>G	GRCh38
NC_000007.13:g.92132577A>G , CM000669.1:g.92132577A>G	GRCh37
NC_000007.12:g.91970513A>G	NCBI36
NG_008341.1:g.30269T>C
NG_008341.2:g.30269T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2072-68T>C MANE Select	ENSP00000248633.4:n.2072-68T>C
ENST00000248633.8:c.2072-68T>C	ENSP00000248633.4:n.2072-68T>C
ENST00000428214.5:c.1901-68T>C	ENSP00000394413.1:n.1901-68T>C
ENST00000438045.5:c.1106-68T>C	ENSP00000410438.1:n.1106-68T>C
ENST00000484913.5:n.2111-68T>C
ENST00000496420.5:n.1748-68T>C
NM_000466.2:c.2072-68T>C	NP_000457.1:n.2072-68T>C
NM_001282677.1:c.1901-68T>C	NP_001269606.1:n.1901-68T>C
NM_001282678.1:c.1448-68T>C	NP_001269607.1:n.1448-68T>C
XM_005250433.3:c.323-68T>C	XP_005250490.1:n.323-68T>C
XR_242246.3:n.2168-68T>C
XM_017012319.2:c.323-68T>C	XP_016867808.1:n.323-68T>C
XR_001744808.2:n.1099-68T>C
XR_242246.5:n.2119-68T>C
NM_000466.3:c.2072-68T>C MANE Select	NP_000457.1:n.2072-68T>C
NM_001282677.2:c.1901-68T>C	NP_001269606.1:n.1901-68T>C
NM_001282678.2:c.1448-68T>C	NP_001269607.1:n.1448-68T>C