Canonical Allele Identifier: CA368171049

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92126058T>G (hg19) ; chr7:g.92496744T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496744T>G , CM000669.2:g.92496744T>G	GRCh38
NC_000007.13:g.92126058T>G , CM000669.1:g.92126058T>G	GRCh37
NC_000007.12:g.91963994T>G	NCBI36
NG_008341.1:g.36788A>C
NG_008341.2:g.36788A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2752A>C MANE Select	ENSP00000248633.4:p.Ser918Arg
ENST00000248633.8:c.2752A>C	ENSP00000248633.4:p.Ser918Arg
ENST00000428214.5:c.2581A>C	ENSP00000394413.1:p.Ser861Arg
ENST00000438045.5:c.1786A>C	ENSP00000410438.1:p.Ser596Arg
ENST00000484913.5:n.2791A>C
ENST00000496420.5:n.2644A>C
NM_000466.2:c.2752A>C	NP_000457.1:p.Ser918Arg
NM_001282677.1:c.2581A>C	NP_001269606.1:p.Ser861Arg
NM_001282678.1:c.2128A>C	NP_001269607.1:p.Ser710Arg
XM_005250433.3:c.1003A>C	XP_005250490.1:p.Ser335Arg
XR_242246.3:n.2848A>C
XM_017012319.2:c.1003A>C	XP_016867808.1:p.Ser335Arg
XR_001744808.2:n.1779A>C
XR_242246.5:n.2799A>C
NM_000466.3:c.2752A>C MANE Select	NP_000457.1:p.Ser918Arg
NM_001282677.2:c.2581A>C	NP_001269606.1:p.Ser861Arg
NM_001282678.2:c.2128A>C	NP_001269607.1:p.Ser710Arg