Canonical Allele Identifier: CA1725936227

Gene: PEX1

Linked Data

• dbSNP Id: rs1791966341
• gnomAD v3: 7-92502219-G-A
• gnomAD v4: 7-92502219-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502219G>A , CM000669.2:g.92502219G>A	GRCh38
NC_000007.13:g.92131533G>A , CM000669.1:g.92131533G>A	GRCh37
NC_000007.12:g.91969469G>A	NCBI36
NG_008341.1:g.31313C>T
NG_008341.2:g.31313C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-140C>T MANE Select	ENSP00000248633.4:n.2227-140C>T
ENST00000248633.8:c.2227-140C>T	ENSP00000248633.4:n.2227-140C>T
ENST00000428214.5:c.2056-140C>T	ENSP00000394413.1:n.2056-140C>T
ENST00000438045.5:c.1261-140C>T	ENSP00000410438.1:n.1261-140C>T
ENST00000484913.5:n.2266-140C>T
ENST00000496092.1:n.25-140C>T
ENST00000496420.5:n.1903-140C>T
NM_000466.2:c.2227-140C>T	NP_000457.1:n.2227-140C>T
NM_001282677.1:c.2056-140C>T	NP_001269606.1:n.2056-140C>T
NM_001282678.1:c.1603-140C>T	NP_001269607.1:n.1603-140C>T
XM_005250433.3:c.478-140C>T	XP_005250490.1:n.478-140C>T
XR_242246.3:n.2323-140C>T
XM_017012319.2:c.478-140C>T	XP_016867808.1:n.478-140C>T
XR_001744808.2:n.1254-140C>T
XR_242246.5:n.2274-140C>T
NM_000466.3:c.2227-140C>T MANE Select	NP_000457.1:n.2227-140C>T
NM_001282677.2:c.2056-140C>T	NP_001269606.1:n.2056-140C>T
NM_001282678.2:c.1603-140C>T	NP_001269607.1:n.1603-140C>T