Canonical Allele Identifier: CA368171288

Gene: PEX1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496776C>G , CM000669.2:g.92496776C>G	GRCh38
NC_000007.13:g.92126090C>G , CM000669.1:g.92126090C>G	GRCh37
NC_000007.12:g.91964026C>G	NCBI36
NG_008341.1:g.36756G>C
NG_008341.2:g.36756G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2720G>C MANE Select	ENSP00000248633.4:p.Gly907Ala
ENST00000248633.8:c.2720G>C	ENSP00000248633.4:p.Gly907Ala
ENST00000428214.5:c.2549G>C	ENSP00000394413.1:p.Gly850Ala
ENST00000438045.5:c.1754G>C	ENSP00000410438.1:p.Gly585Ala
ENST00000484913.5:n.2759G>C
ENST00000496420.5:n.2612G>C
NM_000466.2:c.2720G>C	NP_000457.1:p.Gly907Ala
NM_001282677.1:c.2549G>C	NP_001269606.1:p.Gly850Ala
NM_001282678.1:c.2096G>C	NP_001269607.1:p.Gly699Ala
XM_005250433.3:c.971G>C	XP_005250490.1:p.Gly324Ala
XR_242246.3:n.2816G>C
XM_017012319.2:c.971G>C	XP_016867808.1:p.Gly324Ala
XR_001744808.2:n.1747G>C
XR_242246.5:n.2767G>C
NM_000466.3:c.2720G>C MANE Select	NP_000457.1:p.Gly907Ala
NM_001282677.2:c.2549G>C	NP_001269606.1:p.Gly850Ala
NM_001282678.2:c.2096G>C	NP_001269607.1:p.Gly699Ala