Canonical Allele Identifier: CA1104476455

Gene: PEX1

Linked Data

• dbSNP Id: rs1792829461
• gnomAD v3: 7-92517223-G-C
• gnomAD v4: 7-92517223-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517223G>C , CM000669.2:g.92517223G>C	GRCh38
NC_000007.13:g.92146537G>C , CM000669.1:g.92146537G>C	GRCh37
NC_000007.12:g.91984473G>C	NCBI36
NG_008341.1:g.16309C>G
NG_008341.2:g.16309C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1239+53C>G MANE Select	ENSP00000248633.4:n.1239+53C>G
ENST00000248633.8:c.1239+53C>G	ENSP00000248633.4:n.1239+53C>G
ENST00000422866.1:c.140+53C>G
ENST00000428214.5:c.1239+53C>G	ENSP00000394413.1:n.1239+53C>G
ENST00000438045.5:c.274-3256C>G	ENSP00000410438.1:n.274-3256C>G
ENST00000484913.5:n.1278+53C>G
NM_000466.2:c.1239+53C>G	NP_000457.1:n.1239+53C>G
NM_001282677.1:c.1239+53C>G	NP_001269606.1:n.1239+53C>G
NM_001282678.1:c.615+53C>G	NP_001269607.1:n.615+53C>G
XR_242246.3:n.1335+53C>G
XM_017012319.2:c.-428+53C>G	XP_016867808.1:n.-428+53C>G
XR_001744808.2:n.349+53C>G
XR_242246.5:n.1286+53C>G
NM_000466.3:c.1239+53C>G MANE Select	NP_000457.1:n.1239+53C>G
NM_001282677.2:c.1239+53C>G	NP_001269606.1:n.1239+53C>G
NM_001282678.2:c.615+53C>G	NP_001269607.1:n.615+53C>G