Canonical Allele Identifier: CA4340962

Linked Data

ClinVar Variation Id: 360919
dbSNP Id: rs375062546
gnomAD v2: 7-92123722-A-T
gnomAD v3: 7-92494408-A-T
gnomAD v4: 7-92494408-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494408A>T , CM000669.2:g.92494408A>T GRCh38
NC_000007.13:g.92123722A>T , CM000669.1:g.92123722A>T GRCh37
NC_000007.12:g.91961658A>T NCBI36
NG_008341.1:g.39124T>A
NG_008341.2:g.39124T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2927-12T>A (PEX1) MANE Select ENSP00000248633.4:n.2927-12T>A
ENST00000248633.8:c.2927-12T>A (PEX1) ENSP00000248633.4:n.2927-12T>A
ENST00000428214.5:c.2756-12T>A (PEX1) ENSP00000394413.1:n.2756-12T>A
ENST00000438045.5:c.1961-12T>A (PEX1) ENSP00000410438.1:n.1961-12T>A
ENST00000484913.5:n.2966-12T>A (PEX1)
ENST00000496420.5:n.2819-12T>A (PEX1)
NM_000466.2:c.2927-12T>A (PEX1) NP_000457.1:n.2927-12T>A
NM_001282677.1:c.2756-12T>A (PEX1) NP_001269606.1:n.2756-12T>A
NM_001282678.1:c.2303-12T>A (PEX1) NP_001269607.1:n.2303-12T>A
XM_005250433.3:c.1178-12T>A (PEX1) XP_005250490.1:n.1178-12T>A
XR_242246.3:n.3023-12T>A (PEX1)
XM_017012319.2:c.1178-12T>A (PEX1) XP_016867808.1:n.1178-12T>A
XR_001744808.2:n.1954-12T>A (PEX1)
XR_001744843.2:n.5377A>T (GATAD1)
XR_242246.5:n.2974-12T>A (PEX1)
XR_927494.3:n.4228A>T (GATAD1)
XR_927503.3:n.4159A>T (GATAD1)
NM_000466.3:c.2927-12T>A (PEX1) MANE Select NP_000457.1:n.2927-12T>A
NM_001282677.2:c.2756-12T>A (PEX1) NP_001269606.1:n.2756-12T>A
NM_001282678.2:c.2303-12T>A (PEX1) NP_001269607.1:n.2303-12T>A