Canonical Allele Identifier: CA368187180

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92136319T>C (hg19) ; chr7:g.92507005T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92507005T>C , CM000669.2:g.92507005T>C	GRCh38
NC_000007.13:g.92136319T>C , CM000669.1:g.92136319T>C	GRCh37
NC_000007.12:g.91974255T>C	NCBI36
NG_008341.1:g.26527A>G
NG_008341.2:g.26527A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1792A>G MANE Select	ENSP00000248633.4:p.Thr598Ala
ENST00000248633.8:c.1792A>G	ENSP00000248633.4:p.Thr598Ala
ENST00000422866.1:c.610A>G
ENST00000428214.5:c.1792A>G	ENSP00000394413.1:p.Thr598Ala
ENST00000438045.5:c.826A>G	ENSP00000410438.1:p.Thr276Ala
ENST00000484913.5:n.1831A>G
ENST00000496420.5:n.819A>G
NM_000466.2:c.1792A>G	NP_000457.1:p.Thr598Ala
NM_001282677.1:c.1792A>G	NP_001269606.1:p.Thr598Ala
NM_001282678.1:c.1168A>G	NP_001269607.1:p.Thr390Ala
XM_005250433.3:c.43A>G	XP_005250490.1:p.Thr15Ala
XR_242246.3:n.1888A>G
XM_017012319.2:c.43A>G	XP_016867808.1:p.Thr15Ala
XR_001744808.2:n.819A>G
XR_242246.5:n.1839A>G
NM_000466.3:c.1792A>G MANE Select	NP_000457.1:p.Thr598Ala
NM_001282677.2:c.1792A>G	NP_001269606.1:p.Thr598Ala
NM_001282678.2:c.1168A>G	NP_001269607.1:p.Thr390Ala