Canonical Allele Identifier: CA368198046

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1460928
• ClinVar RCV Id: RCV001965611
• dbSNP Id: rs2116243334
• gnomAD v4: 7-92517411-T-G
• MyVariant Identifiers: chr7:g.92146725T>G (hg19) ; chr7:g.92517411T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517411T>G , CM000669.2:g.92517411T>G	GRCh38
NC_000007.13:g.92146725T>G , CM000669.1:g.92146725T>G	GRCh37
NC_000007.12:g.91984661T>G	NCBI36
NG_008341.1:g.16121A>C
NG_008341.2:g.16121A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1104A>C MANE Select	ENSP00000248633.4:p.Lys368Asn
ENST00000248633.8:c.1104A>C	ENSP00000248633.4:p.Lys368Asn
ENST00000422866.1:c.5A>C
ENST00000428214.5:c.1104A>C	ENSP00000394413.1:p.Lys368Asn
ENST00000438045.5:c.274-3444A>C	ENSP00000410438.1:n.274-3444A>C
ENST00000484913.5:n.1143A>C
NM_000466.2:c.1104A>C	NP_000457.1:p.Lys368Asn
NM_001282677.1:c.1104A>C	NP_001269606.1:p.Lys368Asn
NM_001282678.1:c.480A>C	NP_001269607.1:p.Lys160Asn
XR_242246.3:n.1200A>C
XM_017012319.2:c.-563A>C	XP_016867808.1:n.-563A>C
XR_001744808.2:n.214A>C
XR_242246.5:n.1151A>C
NM_000466.3:c.1104A>C MANE Select	NP_000457.1:p.Lys368Asn
NM_001282677.2:c.1104A>C	NP_001269606.1:p.Lys368Asn
NM_001282678.2:c.480A>C	NP_001269607.1:p.Lys160Asn