Canonical Allele Identifier: CA15510568

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1218521
• ClinVar RCV Id: RCV001592363
• dbSNP Id: rs76587269
• gnomAD v2: 7-92128884-T-C
• gnomAD v3: 7-92499570-T-C
• gnomAD v4: 7-92499570-T-C
• MyVariant Identifiers: chr7:g.92128884T>C (hg19) ; chr7:g.92499570T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499570T>C , CM000669.2:g.92499570T>C	GRCh38
NC_000007.13:g.92128884T>C , CM000669.1:g.92128884T>C	GRCh37
NC_000007.12:g.91966820T>C	NCBI36
NG_008341.1:g.33962A>G
NG_008341.2:g.33962A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2718+134A>G MANE Select	ENSP00000248633.4:n.2718+134A>G
ENST00000248633.8:c.2718+134A>G	ENSP00000248633.4:n.2718+134A>G
ENST00000428214.5:c.2547+134A>G	ENSP00000394413.1:n.2547+134A>G
ENST00000438045.5:c.1752+134A>G	ENSP00000410438.1:n.1752+134A>G
ENST00000484913.5:n.2757+134A>G
ENST00000496420.5:n.2610+134A>G
NM_000466.2:c.2718+134A>G	NP_000457.1:n.2718+134A>G
NM_001282677.1:c.2547+134A>G	NP_001269606.1:n.2547+134A>G
NM_001282678.1:c.2094+134A>G	NP_001269607.1:n.2094+134A>G
XM_005250433.3:c.969+134A>G	XP_005250490.1:n.969+134A>G
XR_242246.3:n.2814+134A>G
XM_017012319.2:c.969+134A>G	XP_016867808.1:n.969+134A>G
XR_001744808.2:n.1745+134A>G
XR_242246.5:n.2765+134A>G
NM_000466.3:c.2718+134A>G MANE Select	NP_000457.1:n.2718+134A>G
NM_001282677.2:c.2547+134A>G	NP_001269606.1:n.2547+134A>G
NM_001282678.2:c.2094+134A>G	NP_001269607.1:n.2094+134A>G