Canonical Allele Identifier: CA2580077816

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2096417
• ClinVar RCV Id: RCV003006109
• gnomAD v4: 7-92496695-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496695C>T , CM000669.2:g.92496695C>T	GRCh38
NC_000007.13:g.92126009C>T , CM000669.1:g.92126009C>T	GRCh37
NC_000007.12:g.91963945C>T	NCBI36
NG_008341.1:g.36837G>A
NG_008341.2:g.36837G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2783+18G>A MANE Select	ENSP00000248633.4:n.2783+18G>A
ENST00000248633.8:c.2783+18G>A	ENSP00000248633.4:n.2783+18G>A
ENST00000428214.5:c.2612+18G>A	ENSP00000394413.1:n.2612+18G>A
ENST00000438045.5:c.1817+18G>A	ENSP00000410438.1:n.1817+18G>A
ENST00000484913.5:n.2822+18G>A
ENST00000496420.5:n.2675+18G>A
NM_000466.2:c.2783+18G>A	NP_000457.1:n.2783+18G>A
NM_001282677.1:c.2612+18G>A	NP_001269606.1:n.2612+18G>A
NM_001282678.1:c.2159+18G>A	NP_001269607.1:n.2159+18G>A
XM_005250433.3:c.1034+18G>A	XP_005250490.1:n.1034+18G>A
XR_242246.3:n.2879+18G>A
XM_017012319.2:c.1034+18G>A	XP_016867808.1:n.1034+18G>A
XR_001744808.2:n.1810+18G>A
XR_242246.5:n.2830+18G>A
NM_000466.3:c.2783+18G>A MANE Select	NP_000457.1:n.2783+18G>A
NM_001282677.2:c.2612+18G>A	NP_001269606.1:n.2612+18G>A
NM_001282678.2:c.2159+18G>A	NP_001269607.1:n.2159+18G>A