Canonical Allele Identifier: CA368197489

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146657A>C (hg19) ; chr7:g.92517343A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517343A>C , CM000669.2:g.92517343A>C	GRCh38
NC_000007.13:g.92146657A>C , CM000669.1:g.92146657A>C	GRCh37
NC_000007.12:g.91984593A>C	NCBI36
NG_008341.1:g.16189T>G
NG_008341.2:g.16189T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1172T>G MANE Select	ENSP00000248633.4:p.Leu391Arg
ENST00000248633.8:c.1172T>G	ENSP00000248633.4:p.Leu391Arg
ENST00000422866.1:c.73T>G
ENST00000428214.5:c.1172T>G	ENSP00000394413.1:p.Leu391Arg
ENST00000438045.5:c.274-3376T>G	ENSP00000410438.1:n.274-3376T>G
ENST00000484913.5:n.1211T>G
NM_000466.2:c.1172T>G	NP_000457.1:p.Leu391Arg
NM_001282677.1:c.1172T>G	NP_001269606.1:p.Leu391Arg
NM_001282678.1:c.548T>G	NP_001269607.1:p.Leu183Arg
XR_242246.3:n.1268T>G
XM_017012319.2:c.-495T>G	XP_016867808.1:n.-495T>G
XR_001744808.2:n.282T>G
XR_242246.5:n.1219T>G
NM_000466.3:c.1172T>G MANE Select	NP_000457.1:p.Leu391Arg
NM_001282677.2:c.1172T>G	NP_001269606.1:p.Leu391Arg
NM_001282678.2:c.548T>G	NP_001269607.1:p.Leu183Arg