Canonical Allele Identifier: CA368184212

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92134207A>C (hg19) ; chr7:g.92504893A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504893A>C , CM000669.2:g.92504893A>C	GRCh38
NC_000007.13:g.92134207A>C , CM000669.1:g.92134207A>C	GRCh37
NC_000007.12:g.91972143A>C	NCBI36
NG_008341.1:g.28639T>G
NG_008341.2:g.28639T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1910T>G MANE Select	ENSP00000248633.4:p.Leu637Arg
ENST00000248633.8:c.1910T>G	ENSP00000248633.4:p.Leu637Arg
ENST00000422866.1:c.728T>G
ENST00000428214.5:c.1900+1355T>G	ENSP00000394413.1:n.1900+1355T>G
ENST00000438045.5:c.944T>G	ENSP00000410438.1:p.Leu315Arg
ENST00000484913.5:n.1949T>G
ENST00000496420.5:n.1586T>G
NM_000466.2:c.1910T>G	NP_000457.1:p.Leu637Arg
NM_001282677.1:c.1900+1355T>G	NP_001269606.1:n.1900+1355T>G
NM_001282678.1:c.1286T>G	NP_001269607.1:p.Leu429Arg
XM_005250433.3:c.161T>G	XP_005250490.1:p.Leu54Arg
XR_242246.3:n.2006T>G
XM_017012319.2:c.161T>G	XP_016867808.1:p.Leu54Arg
XR_001744808.2:n.937T>G
XR_242246.5:n.1957T>G
NM_000466.3:c.1910T>G MANE Select	NP_000457.1:p.Leu637Arg
NM_001282677.2:c.1900+1355T>G	NP_001269606.1:n.1900+1355T>G
NM_001282678.2:c.1286T>G	NP_001269607.1:p.Leu429Arg