Canonical Allele Identifier: CA368183807

Gene: PEX1

Linked Data

• dbSNP Id: rs1193494186
• gnomAD v2: 7-92134162-A-G
• gnomAD v4: 7-92504848-A-G
• MyVariant Identifiers: chr7:g.92134162A>G (hg19) ; chr7:g.92504848A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504848A>G , CM000669.2:g.92504848A>G	GRCh38
NC_000007.13:g.92134162A>G , CM000669.1:g.92134162A>G	GRCh37
NC_000007.12:g.91972098A>G	NCBI36
NG_008341.1:g.28684T>C
NG_008341.2:g.28684T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1955T>C MANE Select	ENSP00000248633.4:p.Val652Ala
ENST00000248633.8:c.1955T>C	ENSP00000248633.4:p.Val652Ala
ENST00000428214.5:c.1900+1400T>C	ENSP00000394413.1:n.1900+1400T>C
ENST00000438045.5:c.989T>C	ENSP00000410438.1:p.Val330Ala
ENST00000484913.5:n.1994T>C
ENST00000496420.5:n.1631T>C
NM_000466.2:c.1955T>C	NP_000457.1:p.Val652Ala
NM_001282677.1:c.1900+1400T>C	NP_001269606.1:n.1900+1400T>C
NM_001282678.1:c.1331T>C	NP_001269607.1:p.Val444Ala
XM_005250433.3:c.206T>C	XP_005250490.1:p.Val69Ala
XR_242246.3:n.2051T>C
XM_017012319.2:c.206T>C	XP_016867808.1:p.Val69Ala
XR_001744808.2:n.982T>C
XR_242246.5:n.2002T>C
NM_000466.3:c.1955T>C MANE Select	NP_000457.1:p.Val652Ala
NM_001282677.2:c.1900+1400T>C	NP_001269606.1:n.1900+1400T>C
NM_001282678.2:c.1331T>C	NP_001269607.1:p.Val444Ala