Canonical Allele Identifier: CA368173939

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1303054
• ClinVar RCV Id: RCV001756553 ; RCV003474019
• dbSNP Id: rs1362906637
• gnomAD v2: 7-92129100-A-G
• gnomAD v3: 7-92499786-A-G
• gnomAD v4: 7-92499786-A-G
• MyVariant Identifiers: chr7:g.92129100A>G (hg19) ; chr7:g.92499786A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499786A>G , CM000669.2:g.92499786A>G	GRCh38
NC_000007.13:g.92129100A>G , CM000669.1:g.92129100A>G	GRCh37
NC_000007.12:g.91967036A>G	NCBI36
NG_008341.1:g.33746T>C
NG_008341.2:g.33746T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2636T>C MANE Select	ENSP00000248633.4:p.Leu879Ser
ENST00000248633.8:c.2636T>C	ENSP00000248633.4:p.Leu879Ser
ENST00000428214.5:c.2465T>C	ENSP00000394413.1:p.Leu822Ser
ENST00000438045.5:c.1670T>C	ENSP00000410438.1:p.Leu557Ser
ENST00000484913.5:n.2675T>C
ENST00000496420.5:n.2528T>C
NM_000466.2:c.2636T>C	NP_000457.1:p.Leu879Ser
NM_001282677.1:c.2465T>C	NP_001269606.1:p.Leu822Ser
NM_001282678.1:c.2012T>C	NP_001269607.1:p.Leu671Ser
XM_005250433.3:c.887T>C	XP_005250490.1:p.Leu296Ser
XR_242246.3:n.2732T>C
XM_017012319.2:c.887T>C	XP_016867808.1:p.Leu296Ser
XR_001744808.2:n.1663T>C
XR_242246.5:n.2683T>C
NM_000466.3:c.2636T>C MANE Select	NP_000457.1:p.Leu879Ser
NM_001282677.2:c.2465T>C	NP_001269606.1:p.Leu822Ser
NM_001282678.2:c.2012T>C	NP_001269607.1:p.Leu671Ser