Canonical Allele Identifier: CA368184067

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92134189G>C (hg19) ; chr7:g.92504875G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504875G>C , CM000669.2:g.92504875G>C	GRCh38
NC_000007.13:g.92134189G>C , CM000669.1:g.92134189G>C	GRCh37
NC_000007.12:g.91972125G>C	NCBI36
NG_008341.1:g.28657C>G
NG_008341.2:g.28657C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1928C>G MANE Select	ENSP00000248633.4:p.Thr643Ser
ENST00000248633.8:c.1928C>G	ENSP00000248633.4:p.Thr643Ser
ENST00000428214.5:c.1900+1373C>G	ENSP00000394413.1:n.1900+1373C>G
ENST00000438045.5:c.962C>G	ENSP00000410438.1:p.Thr321Ser
ENST00000484913.5:n.1967C>G
ENST00000496420.5:n.1604C>G
NM_000466.2:c.1928C>G	NP_000457.1:p.Thr643Ser
NM_001282677.1:c.1900+1373C>G	NP_001269606.1:n.1900+1373C>G
NM_001282678.1:c.1304C>G	NP_001269607.1:p.Thr435Ser
XM_005250433.3:c.179C>G	XP_005250490.1:p.Thr60Ser
XR_242246.3:n.2024C>G
XM_017012319.2:c.179C>G	XP_016867808.1:p.Thr60Ser
XR_001744808.2:n.955C>G
XR_242246.5:n.1975C>G
NM_000466.3:c.1928C>G MANE Select	NP_000457.1:p.Thr643Ser
NM_001282677.2:c.1900+1373C>G	NP_001269606.1:n.1900+1373C>G
NM_001282678.2:c.1304C>G	NP_001269607.1:p.Thr435Ser