Canonical Allele Identifier: CA368176828

Gene: PEX1

Linked Data

• gnomAD v4: 7-92501892-T-G
• MyVariant Identifiers: chr7:g.92131206T>G (hg19) ; chr7:g.92501892T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501892T>G , CM000669.2:g.92501892T>G	GRCh38
NC_000007.13:g.92131206T>G , CM000669.1:g.92131206T>G	GRCh37
NC_000007.12:g.91969142T>G	NCBI36
NG_008341.1:g.31640A>C
NG_008341.2:g.31640A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2414A>C MANE Select	ENSP00000248633.4:p.Glu805Ala
ENST00000248633.8:c.2414A>C	ENSP00000248633.4:p.Glu805Ala
ENST00000428214.5:c.2243A>C	ENSP00000394413.1:p.Glu748Ala
ENST00000438045.5:c.1448A>C	ENSP00000410438.1:p.Glu483Ala
ENST00000484913.5:n.2453A>C
ENST00000496092.1:n.212A>C
ENST00000496420.5:n.2090A>C
NM_000466.2:c.2414A>C	NP_000457.1:p.Glu805Ala
NM_001282677.1:c.2243A>C	NP_001269606.1:p.Glu748Ala
NM_001282678.1:c.1790A>C	NP_001269607.1:p.Glu597Ala
XM_005250433.3:c.665A>C	XP_005250490.1:p.Glu222Ala
XR_242246.3:n.2510A>C
XM_017012319.2:c.665A>C	XP_016867808.1:p.Glu222Ala
XR_001744808.2:n.1441A>C
XR_242246.5:n.2461A>C
NM_000466.3:c.2414A>C MANE Select	NP_000457.1:p.Glu805Ala
NM_001282677.2:c.2243A>C	NP_001269606.1:p.Glu748Ala
NM_001282678.2:c.1790A>C	NP_001269607.1:p.Glu597Ala