Canonical Allele Identifier: CA368178676

Gene: PEX1

Linked Data

• dbSNP Id: rs1485622048
• gnomAD v2: 7-92131374-A-G
• gnomAD v4: 7-92502060-A-G
• MyVariant Identifiers: chr7:g.92131374A>G (hg19) ; chr7:g.92502060A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502060A>G , CM000669.2:g.92502060A>G	GRCh38
NC_000007.13:g.92131374A>G , CM000669.1:g.92131374A>G	GRCh37
NC_000007.12:g.91969310A>G	NCBI36
NG_008341.1:g.31472T>C
NG_008341.2:g.31472T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2246T>C MANE Select	ENSP00000248633.4:p.Leu749Pro
ENST00000248633.8:c.2246T>C	ENSP00000248633.4:p.Leu749Pro
ENST00000428214.5:c.2075T>C	ENSP00000394413.1:p.Leu692Pro
ENST00000438045.5:c.1280T>C	ENSP00000410438.1:p.Leu427Pro
ENST00000484913.5:n.2285T>C
ENST00000496092.1:n.44T>C
ENST00000496420.5:n.1922T>C
NM_000466.2:c.2246T>C	NP_000457.1:p.Leu749Pro
NM_001282677.1:c.2075T>C	NP_001269606.1:p.Leu692Pro
NM_001282678.1:c.1622T>C	NP_001269607.1:p.Leu541Pro
XM_005250433.3:c.497T>C	XP_005250490.1:p.Leu166Pro
XR_242246.3:n.2342T>C
XM_017012319.2:c.497T>C	XP_016867808.1:p.Leu166Pro
XR_001744808.2:n.1273T>C
XR_242246.5:n.2293T>C
NM_000466.3:c.2246T>C MANE Select	NP_000457.1:p.Leu749Pro
NM_001282677.2:c.2075T>C	NP_001269606.1:p.Leu692Pro
NM_001282678.2:c.1622T>C	NP_001269607.1:p.Leu541Pro