Canonical Allele Identifier: CA4341177
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs763657593
gnomAD v2: 7-92131409-C-G
gnomAD v4: 7-92502095-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92502095C>G , CM000669.2:g.92502095C>G GRCh38
NC_000007.13:g.92131409C>G , CM000669.1:g.92131409C>G GRCh37
NC_000007.12:g.91969345C>G NCBI36
NG_008341.1:g.31437G>C
NG_008341.2:g.31437G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2227-16G>C MANE Select ENSP00000248633.4:n.2227-16G>C
ENST00000248633.8:c.2227-16G>C ENSP00000248633.4:n.2227-16G>C
ENST00000428214.5:c.2056-16G>C ENSP00000394413.1:n.2056-16G>C
ENST00000438045.5:c.1261-16G>C ENSP00000410438.1:n.1261-16G>C
ENST00000484913.5:n.2266-16G>C
ENST00000496092.1:n.25-16G>C
ENST00000496420.5:n.1903-16G>C
NM_000466.2:c.2227-16G>C NP_000457.1:n.2227-16G>C
NM_001282677.1:c.2056-16G>C NP_001269606.1:n.2056-16G>C
NM_001282678.1:c.1603-16G>C NP_001269607.1:n.1603-16G>C
XM_005250433.3:c.478-16G>C XP_005250490.1:n.478-16G>C
XR_242246.3:n.2323-16G>C
XM_017012319.2:c.478-16G>C XP_016867808.1:n.478-16G>C
XR_001744808.2:n.1254-16G>C
XR_242246.5:n.2274-16G>C
NM_000466.3:c.2227-16G>C MANE Select NP_000457.1:n.2227-16G>C
NM_001282677.2:c.2056-16G>C NP_001269606.1:n.2056-16G>C
NM_001282678.2:c.1603-16G>C NP_001269607.1:n.1603-16G>C