Canonical Allele Identifier: CA368197933

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146707A>C (hg19) ; chr7:g.92517393A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517393A>C , CM000669.2:g.92517393A>C	GRCh38
NC_000007.13:g.92146707A>C , CM000669.1:g.92146707A>C	GRCh37
NC_000007.12:g.91984643A>C	NCBI36
NG_008341.1:g.16139T>G
NG_008341.2:g.16139T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1122T>G MANE Select	ENSP00000248633.4:p.His374Gln
ENST00000248633.8:c.1122T>G	ENSP00000248633.4:p.His374Gln
ENST00000422866.1:c.23T>G
ENST00000428214.5:c.1122T>G	ENSP00000394413.1:p.His374Gln
ENST00000438045.5:c.274-3426T>G	ENSP00000410438.1:n.274-3426T>G
ENST00000484913.5:n.1161T>G
NM_000466.2:c.1122T>G	NP_000457.1:p.His374Gln
NM_001282677.1:c.1122T>G	NP_001269606.1:p.His374Gln
NM_001282678.1:c.498T>G	NP_001269607.1:p.His166Gln
XR_242246.3:n.1218T>G
XM_017012319.2:c.-545T>G	XP_016867808.1:n.-545T>G
XR_001744808.2:n.232T>G
XR_242246.5:n.1169T>G
NM_000466.3:c.1122T>G MANE Select	NP_000457.1:p.His374Gln
NM_001282677.2:c.1122T>G	NP_001269606.1:p.His374Gln
NM_001282678.2:c.498T>G	NP_001269607.1:p.His166Gln