Canonical Allele Identifier: CA4341566

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2091422
• ClinVar RCV Id: RCV003007953
• dbSNP Id: rs753770227
• ExAC: 7:92147198 T / C
• gnomAD v2: 7-92147198-T-C
• gnomAD v4: 7-92517884-T-C
• MyVariant Identifiers: chr7:g.92147198T>C (hg19) ; chr7:g.92517884T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517884T>C , CM000669.2:g.92517884T>C	GRCh38
NC_000007.13:g.92147198T>C , CM000669.1:g.92147198T>C	GRCh37
NC_000007.12:g.91985134T>C	NCBI36
NG_008341.1:g.15648A>G
NG_008341.2:g.15648A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.631A>G MANE Select	ENSP00000248633.4:p.Lys211Glu
ENST00000248633.8:c.631A>G	ENSP00000248633.4:p.Lys211Glu
ENST00000428214.5:c.631A>G	ENSP00000394413.1:p.Lys211Glu
ENST00000438045.5:c.274-3917A>G	ENSP00000410438.1:n.274-3917A>G
ENST00000484913.5:n.670A>G
NM_000466.2:c.631A>G	NP_000457.1:p.Lys211Glu
NM_001282677.1:c.631A>G	NP_001269606.1:p.Lys211Glu
NM_001282678.1:c.7A>G	NP_001269607.1:p.Lys3Glu
XR_242246.3:n.727A>G
XR_242246.5:n.678A>G
NM_000466.3:c.631A>G MANE Select	NP_000457.1:p.Lys211Glu
NM_001282677.2:c.631A>G	NP_001269606.1:p.Lys211Glu
NM_001282678.2:c.7A>G	NP_001269607.1:p.Lys3Glu