Canonical Allele Identifier: CA4341401

Gene: PEX1

Linked Data

• ClinVar Variation Id: 360927
• ClinVar RCV Id: RCV000348562 ; RCV000598077 ; RCV001507172 ; RCV003932488
• dbSNP Id: rs139919229
• ExAC: 7:92140936 C / T
• gnomAD v2: 7-92140936-C-T
• gnomAD v3: 7-92511622-C-T
• gnomAD v4: 7-92511622-C-T
• MyVariant Identifiers: chr7:g.92140936C>T (hg19) ; chr7:g.92511622C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511622C>T , CM000669.2:g.92511622C>T	GRCh38
NC_000007.13:g.92140936C>T , CM000669.1:g.92140936C>T	GRCh37
NC_000007.12:g.91978872C>T	NCBI36
NG_008341.1:g.21910G>A
NG_008341.2:g.21910G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1441G>A MANE Select	ENSP00000248633.4:p.Val481Ile
ENST00000248633.8:c.1441G>A	ENSP00000248633.4:p.Val481Ile
ENST00000422866.1:c.342G>A
ENST00000428214.5:c.1441G>A	ENSP00000394413.1:p.Val481Ile
ENST00000438045.5:c.475G>A	ENSP00000410438.1:p.Val159Ile
ENST00000476923.1:n.202G>A
ENST00000484913.5:n.1480G>A
NM_000466.2:c.1441G>A	NP_000457.1:p.Val481Ile
NM_001282677.1:c.1441G>A	NP_001269606.1:p.Val481Ile
NM_001282678.1:c.817G>A	NP_001269607.1:p.Val273Ile
XM_005250433.3:c.-226G>A	XP_005250490.1:n.-226G>A
XR_242246.3:n.1537G>A
XM_017012319.2:c.-226G>A	XP_016867808.1:n.-226G>A
XR_001744808.2:n.551G>A
XR_242246.5:n.1488G>A
NM_000466.3:c.1441G>A MANE Select	NP_000457.1:p.Val481Ile
NM_001282677.2:c.1441G>A	NP_001269606.1:p.Val481Ile
NM_001282678.2:c.817G>A	NP_001269607.1:p.Val273Ile