Canonical Allele Identifier: CA161964779

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1492832
• ClinVar RCV Id: RCV001981268
• dbSNP Id: rs200438144
• gnomAD v3: 7-92504887-T-A
• gnomAD v4: 7-92504887-T-A
• MyVariant Identifiers: chr7:g.92134201T>A (hg19) ; chr7:g.92504887T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504887T>A , CM000669.2:g.92504887T>A	GRCh38
NC_000007.13:g.92134201T>A , CM000669.1:g.92134201T>A	GRCh37
NC_000007.12:g.91972137T>A	NCBI36
NG_008341.1:g.28645A>T
NG_008341.2:g.28645A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1916A>T MANE Select	ENSP00000248633.4:p.Asn639Ile
ENST00000248633.8:c.1916A>T	ENSP00000248633.4:p.Asn639Ile
ENST00000422866.1:c.734A>T
ENST00000428214.5:c.1900+1361A>T	ENSP00000394413.1:n.1900+1361A>T
ENST00000438045.5:c.950A>T	ENSP00000410438.1:p.Asn317Ile
ENST00000484913.5:n.1955A>T
ENST00000496420.5:n.1592A>T
NM_000466.2:c.1916A>T	NP_000457.1:p.Asn639Ile
NM_001282677.1:c.1900+1361A>T	NP_001269606.1:n.1900+1361A>T
NM_001282678.1:c.1292A>T	NP_001269607.1:p.Asn431Ile
XM_005250433.3:c.167A>T	XP_005250490.1:p.Asn56Ile
XR_242246.3:n.2012A>T
XM_017012319.2:c.167A>T	XP_016867808.1:p.Asn56Ile
XR_001744808.2:n.943A>T
XR_242246.5:n.1963A>T
NM_000466.3:c.1916A>T MANE Select	NP_000457.1:p.Asn639Ile
NM_001282677.2:c.1900+1361A>T	NP_001269606.1:n.1900+1361A>T
NM_001282678.2:c.1292A>T	NP_001269607.1:p.Asn431Ile