Canonical Allele Identifier: CA4341198

Gene: PEX1

Linked Data

• ClinVar Variation Id: 971689
• ClinVar RCV Id: RCV001247525 ; RCV001250066 ; RCV003393917 ; RCV003481031 ; RCV004034895
• dbSNP Id: rs141510219
• ExAC: 7:92132381 C / T
• gnomAD v2: 7-92132381-C-T
• gnomAD v3: 7-92503067-C-T
• gnomAD v4: 7-92503067-C-T
• MyVariant Identifiers: chr7:g.92132381C>T (hg19) ; chr7:g.92503067C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503067C>T , CM000669.2:g.92503067C>T	GRCh38
NC_000007.13:g.92132381C>T , CM000669.1:g.92132381C>T	GRCh37
NC_000007.12:g.91970317C>T	NCBI36
NG_008341.1:g.30465G>A
NG_008341.2:g.30465G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2200G>A MANE Select	ENSP00000248633.4:p.Val734Ile
ENST00000248633.8:c.2200G>A	ENSP00000248633.4:p.Val734Ile
ENST00000428214.5:c.2029G>A	ENSP00000394413.1:p.Val677Ile
ENST00000438045.5:c.1234G>A	ENSP00000410438.1:p.Val412Ile
ENST00000484913.5:n.2239G>A
ENST00000496420.5:n.1876G>A
NM_000466.2:c.2200G>A	NP_000457.1:p.Val734Ile
NM_001282677.1:c.2029G>A	NP_001269606.1:p.Val677Ile
NM_001282678.1:c.1576G>A	NP_001269607.1:p.Val526Ile
XM_005250433.3:c.451G>A	XP_005250490.1:p.Val151Ile
XR_242246.3:n.2296G>A
XM_017012319.2:c.451G>A	XP_016867808.1:p.Val151Ile
XR_001744808.2:n.1227G>A
XR_242246.5:n.2247G>A
NM_000466.3:c.2200G>A MANE Select	NP_000457.1:p.Val734Ile
NM_001282677.2:c.2029G>A	NP_001269606.1:p.Val677Ile
NM_001282678.2:c.1576G>A	NP_001269607.1:p.Val526Ile