Canonical Allele Identifier: CA368190295

Gene: PEX1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511021C>G , CM000669.2:g.92511021C>G	GRCh38
NC_000007.13:g.92140335C>G , CM000669.1:g.92140335C>G	GRCh37
NC_000007.12:g.91978271C>G	NCBI36
NG_008341.1:g.22511G>C
NG_008341.2:g.22511G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1510G>C MANE Select	ENSP00000248633.4:p.Val504Leu
ENST00000248633.8:c.1510G>C	ENSP00000248633.4:p.Val504Leu
ENST00000422866.1:c.411G>C
ENST00000428214.5:c.1510G>C	ENSP00000394413.1:p.Val504Leu
ENST00000438045.5:c.544G>C	ENSP00000410438.1:p.Val182Leu
ENST00000476923.1:n.271G>C
ENST00000484913.5:n.1549G>C
NM_000466.2:c.1510G>C	NP_000457.1:p.Val504Leu
NM_001282677.1:c.1510G>C	NP_001269606.1:p.Val504Leu
NM_001282678.1:c.886G>C	NP_001269607.1:p.Val296Leu
XM_005250433.3:c.-157G>C	XP_005250490.1:n.-157G>C
XR_242246.3:n.1606G>C
XM_017012319.2:c.-157G>C	XP_016867808.1:n.-157G>C
XR_001744808.2:n.620G>C
XR_242246.5:n.1557G>C
NM_000466.3:c.1510G>C MANE Select	NP_000457.1:p.Val504Leu
NM_001282677.2:c.1510G>C	NP_001269606.1:p.Val504Leu
NM_001282678.2:c.886G>C	NP_001269607.1:p.Val296Leu