Canonical Allele Identifier: CA576304219
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs1174972094
gnomAD v2: 7-92129002-T-A
gnomAD v3: 7-92499688-T-A
gnomAD v4: 7-92499688-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92499688T>A , CM000669.2:g.92499688T>A GRCh38
NC_000007.13:g.92129002T>A , CM000669.1:g.92129002T>A GRCh37
NC_000007.12:g.91966938T>A NCBI36
NG_008341.1:g.33844A>T
NG_008341.2:g.33844A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2718+16A>T MANE Select ENSP00000248633.4:n.2718+16A>T
ENST00000248633.8:c.2718+16A>T ENSP00000248633.4:n.2718+16A>T
ENST00000428214.5:c.2547+16A>T ENSP00000394413.1:n.2547+16A>T
ENST00000438045.5:c.1752+16A>T ENSP00000410438.1:n.1752+16A>T
ENST00000484913.5:n.2757+16A>T
ENST00000496420.5:n.2610+16A>T
NM_000466.2:c.2718+16A>T NP_000457.1:n.2718+16A>T
NM_001282677.1:c.2547+16A>T NP_001269606.1:n.2547+16A>T
NM_001282678.1:c.2094+16A>T NP_001269607.1:n.2094+16A>T
XM_005250433.3:c.969+16A>T XP_005250490.1:n.969+16A>T
XR_242246.3:n.2814+16A>T
XM_017012319.2:c.969+16A>T XP_016867808.1:n.969+16A>T
XR_001744808.2:n.1745+16A>T
XR_242246.5:n.2765+16A>T
NM_000466.3:c.2718+16A>T MANE Select NP_000457.1:n.2718+16A>T
NM_001282677.2:c.2547+16A>T NP_001269606.1:n.2547+16A>T
NM_001282678.2:c.2094+16A>T NP_001269607.1:n.2094+16A>T