Canonical Allele Identifier: CA368178079

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131322A>C (hg19) ; chr7:g.92502008A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502008A>C , CM000669.2:g.92502008A>C	GRCh38
NC_000007.13:g.92131322A>C , CM000669.1:g.92131322A>C	GRCh37
NC_000007.12:g.91969258A>C	NCBI36
NG_008341.1:g.31524T>G
NG_008341.2:g.31524T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2298T>G MANE Select	ENSP00000248633.4:p.Asp766Glu
ENST00000248633.8:c.2298T>G	ENSP00000248633.4:p.Asp766Glu
ENST00000428214.5:c.2127T>G	ENSP00000394413.1:p.Asp709Glu
ENST00000438045.5:c.1332T>G	ENSP00000410438.1:p.Asp444Glu
ENST00000484913.5:n.2337T>G
ENST00000496092.1:n.96T>G
ENST00000496420.5:n.1974T>G
NM_000466.2:c.2298T>G	NP_000457.1:p.Asp766Glu
NM_001282677.1:c.2127T>G	NP_001269606.1:p.Asp709Glu
NM_001282678.1:c.1674T>G	NP_001269607.1:p.Asp558Glu
XM_005250433.3:c.549T>G	XP_005250490.1:p.Asp183Glu
XR_242246.3:n.2394T>G
XM_017012319.2:c.549T>G	XP_016867808.1:p.Asp183Glu
XR_001744808.2:n.1325T>G
XR_242246.5:n.2345T>G
NM_000466.3:c.2298T>G MANE Select	NP_000457.1:p.Asp766Glu
NM_001282677.2:c.2127T>G	NP_001269606.1:p.Asp709Glu
NM_001282678.2:c.1674T>G	NP_001269607.1:p.Asp558Glu