Canonical Allele Identifier: CA4341235
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs766079949
gnomAD v2: 7-92134076-C-G
gnomAD v4: 7-92504762-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504762C>G , CM000669.2:g.92504762C>G GRCh38
NC_000007.13:g.92134076C>G , CM000669.1:g.92134076C>G GRCh37
NC_000007.12:g.91972012C>G NCBI36
NG_008341.1:g.28770G>C
NG_008341.2:g.28770G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2041G>C MANE Select ENSP00000248633.4:p.Asp681His
ENST00000248633.8:c.2041G>C ENSP00000248633.4:p.Asp681His
ENST00000428214.5:c.1900+1486G>C ENSP00000394413.1:n.1900+1486G>C
ENST00000438045.5:c.1075G>C ENSP00000410438.1:p.Asp359His
ENST00000484913.5:n.2080G>C
ENST00000496420.5:n.1717G>C
NM_000466.2:c.2041G>C NP_000457.1:p.Asp681His
NM_001282677.1:c.1900+1486G>C NP_001269606.1:n.1900+1486G>C
NM_001282678.1:c.1417G>C NP_001269607.1:p.Asp473His
XM_005250433.3:c.292G>C XP_005250490.1:p.Asp98His
XR_242246.3:n.2137G>C
XM_017012319.2:c.292G>C XP_016867808.1:p.Asp98His
XR_001744808.2:n.1068G>C
XR_242246.5:n.2088G>C
NM_000466.3:c.2041G>C MANE Select NP_000457.1:p.Asp681His
NM_001282677.2:c.1900+1486G>C NP_001269606.1:n.1900+1486G>C
NM_001282678.2:c.1417G>C NP_001269607.1:p.Asp473His