Canonical Allele Identifier: CA4341230

Gene: PEX1

Linked Data

• dbSNP Id: rs149541790
• ExAC: 7:92134069 A / G
• gnomAD v2: 7-92134069-A-G
• gnomAD v4: 7-92504755-A-G
• MyVariant Identifiers: chr7:g.92134069A>G (hg19) ; chr7:g.92504755A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504755A>G , CM000669.2:g.92504755A>G	GRCh38
NC_000007.13:g.92134069A>G , CM000669.1:g.92134069A>G	GRCh37
NC_000007.12:g.91972005A>G	NCBI36
NG_008341.1:g.28777T>C
NG_008341.2:g.28777T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2048T>C MANE Select	ENSP00000248633.4:p.Val683Ala
ENST00000248633.8:c.2048T>C	ENSP00000248633.4:p.Val683Ala
ENST00000428214.5:c.1900+1493T>C	ENSP00000394413.1:n.1900+1493T>C
ENST00000438045.5:c.1082T>C	ENSP00000410438.1:p.Val361Ala
ENST00000484913.5:n.2087T>C
ENST00000496420.5:n.1724T>C
NM_000466.2:c.2048T>C	NP_000457.1:p.Val683Ala
NM_001282677.1:c.1900+1493T>C	NP_001269606.1:n.1900+1493T>C
NM_001282678.1:c.1424T>C	NP_001269607.1:p.Val475Ala
XM_005250433.3:c.299T>C	XP_005250490.1:p.Val100Ala
XR_242246.3:n.2144T>C
XM_017012319.2:c.299T>C	XP_016867808.1:p.Val100Ala
XR_001744808.2:n.1075T>C
XR_242246.5:n.2095T>C
NM_000466.3:c.2048T>C MANE Select	NP_000457.1:p.Val683Ala
NM_001282677.2:c.1900+1493T>C	NP_001269606.1:n.1900+1493T>C
NM_001282678.2:c.1424T>C	NP_001269607.1:p.Val475Ala