Canonical Allele Identifier: CA368177070

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131224T>C (hg19) ; chr7:g.92501910T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501910T>C , CM000669.2:g.92501910T>C	GRCh38
NC_000007.13:g.92131224T>C , CM000669.1:g.92131224T>C	GRCh37
NC_000007.12:g.91969160T>C	NCBI36
NG_008341.1:g.31622A>G
NG_008341.2:g.31622A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2396A>G MANE Select	ENSP00000248633.4:p.Gln799Arg
ENST00000248633.8:c.2396A>G	ENSP00000248633.4:p.Gln799Arg
ENST00000428214.5:c.2225A>G	ENSP00000394413.1:p.Gln742Arg
ENST00000438045.5:c.1430A>G	ENSP00000410438.1:p.Gln477Arg
ENST00000484913.5:n.2435A>G
ENST00000496092.1:n.194A>G
ENST00000496420.5:n.2072A>G
NM_000466.2:c.2396A>G	NP_000457.1:p.Gln799Arg
NM_001282677.1:c.2225A>G	NP_001269606.1:p.Gln742Arg
NM_001282678.1:c.1772A>G	NP_001269607.1:p.Gln591Arg
XM_005250433.3:c.647A>G	XP_005250490.1:p.Gln216Arg
XR_242246.3:n.2492A>G
XM_017012319.2:c.647A>G	XP_016867808.1:p.Gln216Arg
XR_001744808.2:n.1423A>G
XR_242246.5:n.2443A>G
NM_000466.3:c.2396A>G MANE Select	NP_000457.1:p.Gln799Arg
NM_001282677.2:c.2225A>G	NP_001269606.1:p.Gln742Arg
NM_001282678.2:c.1772A>G	NP_001269607.1:p.Gln591Arg