Canonical Allele Identifier: CA4340959

Linked Data

ClinVar Variation Id: 1626660
ClinVar RCV Id: RCV002120526
dbSNP Id: rs770779494
gnomAD v2: 7-92123716-G-A
gnomAD v3: 7-92494402-G-A
gnomAD v4: 7-92494402-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494402G>A , CM000669.2:g.92494402G>A GRCh38
NC_000007.13:g.92123716G>A , CM000669.1:g.92123716G>A GRCh37
NC_000007.12:g.91961652G>A NCBI36
NG_008341.1:g.39130C>T
NG_008341.2:g.39130C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2927-6C>T (PEX1) MANE Select ENSP00000248633.4:n.2927-6C>T
ENST00000248633.8:c.2927-6C>T (PEX1) ENSP00000248633.4:n.2927-6C>T
ENST00000428214.5:c.2756-6C>T (PEX1) ENSP00000394413.1:n.2756-6C>T
ENST00000438045.5:c.1961-6C>T (PEX1) ENSP00000410438.1:n.1961-6C>T
ENST00000484913.5:n.2966-6C>T (PEX1)
ENST00000496420.5:n.2819-6C>T (PEX1)
NM_000466.2:c.2927-6C>T (PEX1) NP_000457.1:n.2927-6C>T
NM_001282677.1:c.2756-6C>T (PEX1) NP_001269606.1:n.2756-6C>T
NM_001282678.1:c.2303-6C>T (PEX1) NP_001269607.1:n.2303-6C>T
XM_005250433.3:c.1178-6C>T (PEX1) XP_005250490.1:n.1178-6C>T
XR_242246.3:n.3023-6C>T (PEX1)
XM_017012319.2:c.1178-6C>T (PEX1) XP_016867808.1:n.1178-6C>T
XR_001744808.2:n.1954-6C>T (PEX1)
XR_001744843.2:n.5371G>A (GATAD1)
XR_242246.5:n.2974-6C>T (PEX1)
XR_927494.3:n.4222G>A (GATAD1)
XR_927503.3:n.4153G>A (GATAD1)
NM_000466.3:c.2927-6C>T (PEX1) MANE Select NP_000457.1:n.2927-6C>T
NM_001282677.2:c.2756-6C>T (PEX1) NP_001269606.1:n.2756-6C>T
NM_001282678.2:c.2303-6C>T (PEX1) NP_001269607.1:n.2303-6C>T