Canonical Allele Identifier: CA456483466

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506255-A-G
• MyVariant Identifiers: chr7:g.92135569A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506255A>G , CM000669.2:g.92506255A>G	GRCh38
NC_000007.13:g.92135569A>G , CM000669.1:g.92135569A>G	GRCh37
NC_000007.12:g.91973505A>G	NCBI36
NG_008341.1:g.27277T>C
NG_008341.2:g.27277T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1893T>C MANE Select	ENSP00000248633.4:p.Ala631=
ENST00000248633.8:c.1893T>C	ENSP00000248633.4:p.Ala631=
ENST00000422866.1:c.711T>C
ENST00000428214.5:c.1893T>C	ENSP00000394413.1:p.Ala631=
ENST00000438045.5:c.927T>C	ENSP00000410438.1:p.Ala309=
ENST00000484913.5:n.1932T>C
ENST00000496420.5:n.1569T>C
NM_000466.2:c.1893T>C	NP_000457.1:p.Ala631=
NM_001282677.1:c.1893T>C	NP_001269606.1:p.Ala631=
NM_001282678.1:c.1269T>C	NP_001269607.1:p.Ala423=
XM_005250433.3:c.144T>C	XP_005250490.1:p.Ala48=
XR_242246.3:n.1989T>C
XM_017012319.2:c.144T>C	XP_016867808.1:p.Ala48=
XR_001744808.2:n.920T>C
XR_242246.5:n.1940T>C
NM_000466.3:c.1893T>C MANE Select	NP_000457.1:p.Ala631=
NM_001282677.2:c.1893T>C	NP_001269606.1:p.Ala631=
NM_001282678.2:c.1269T>C	NP_001269607.1:p.Ala423=