Canonical Allele Identifier: CA4341104

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501532A>G , CM000669.2:g.92501532A>G	GRCh38
NC_000007.13:g.92130846A>G , CM000669.1:g.92130846A>G	GRCh37
NC_000007.12:g.91968782A>G	NCBI36
NG_008341.1:g.32000T>C
NG_008341.2:g.32000T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.2558T>C MANE Select	NP_000457.1:p.Met853Thr
ENST00000248633.9:c.2558T>C MANE Select	ENSP00000248633.4:p.Met853Thr
NM_000466.2:c.2558T>C	NP_000457.1:p.Met853Thr
NM_001282677.1:c.2387T>C	NP_001269606.1:p.Met796Thr
NM_001282677.2:c.2387T>C	NP_001269606.1:p.Met796Thr
NM_001282678.1:c.1934T>C	NP_001269607.1:p.Met645Thr
NM_001282678.2:c.1934T>C	NP_001269607.1:p.Met645Thr
ENST00000248633.8:c.2558T>C	ENSP00000248633.4:p.Met853Thr
ENST00000428214.5:c.2387T>C	ENSP00000394413.1:p.Met796Thr
ENST00000438045.5:c.1592T>C	ENSP00000410438.1:p.Met531Thr
ENST00000484913.5:n.2597T>C
ENST00000496420.5:n.2450T>C
XM_005250433.3:c.809T>C	XP_005250490.1:p.Met270Thr
XM_017012319.2:c.809T>C	XP_016867808.1:p.Met270Thr
XR_001744808.2:n.1585T>C
XR_242246.3:n.2654T>C
XR_242246.5:n.2605T>C