Canonical Allele Identifier: CA368177626

Gene: PEX1

Linked Data

• dbSNP Id: rs1337212200
• gnomAD v2: 7-92131285-A-C
• gnomAD v4: 7-92501971-A-C
• MyVariant Identifiers: chr7:g.92131285A>C (hg19) ; chr7:g.92501971A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501971A>C , CM000669.2:g.92501971A>C	GRCh38
NC_000007.13:g.92131285A>C , CM000669.1:g.92131285A>C	GRCh37
NC_000007.12:g.91969221A>C	NCBI36
NG_008341.1:g.31561T>G
NG_008341.2:g.31561T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2335T>G MANE Select	ENSP00000248633.4:p.Phe779Val
ENST00000248633.8:c.2335T>G	ENSP00000248633.4:p.Phe779Val
ENST00000428214.5:c.2164T>G	ENSP00000394413.1:p.Phe722Val
ENST00000438045.5:c.1369T>G	ENSP00000410438.1:p.Phe457Val
ENST00000484913.5:n.2374T>G
ENST00000496092.1:n.133T>G
ENST00000496420.5:n.2011T>G
NM_000466.2:c.2335T>G	NP_000457.1:p.Phe779Val
NM_001282677.1:c.2164T>G	NP_001269606.1:p.Phe722Val
NM_001282678.1:c.1711T>G	NP_001269607.1:p.Phe571Val
XM_005250433.3:c.586T>G	XP_005250490.1:p.Phe196Val
XR_242246.3:n.2431T>G
XM_017012319.2:c.586T>G	XP_016867808.1:p.Phe196Val
XR_001744808.2:n.1362T>G
XR_242246.5:n.2382T>G
NM_000466.3:c.2335T>G MANE Select	NP_000457.1:p.Phe779Val
NM_001282677.2:c.2164T>G	NP_001269606.1:p.Phe722Val
NM_001282678.2:c.1711T>G	NP_001269607.1:p.Phe571Val