Canonical Allele Identifier: CA368174185

Gene: PEX1

Linked Data

• gnomAD v4: 7-92499818-G-T
• MyVariant Identifiers: chr7:g.92129132G>T (hg19) ; chr7:g.92499818G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499818G>T , CM000669.2:g.92499818G>T	GRCh38
NC_000007.13:g.92129132G>T , CM000669.1:g.92129132G>T	GRCh37
NC_000007.12:g.91967068G>T	NCBI36
NG_008341.1:g.33714C>A
NG_008341.2:g.33714C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2604C>A MANE Select	ENSP00000248633.4:p.Asn868Lys
ENST00000248633.8:c.2604C>A	ENSP00000248633.4:p.Asn868Lys
ENST00000428214.5:c.2433C>A	ENSP00000394413.1:p.Asn811Lys
ENST00000438045.5:c.1638C>A	ENSP00000410438.1:p.Asn546Lys
ENST00000484913.5:n.2643C>A
ENST00000496420.5:n.2496C>A
NM_000466.2:c.2604C>A	NP_000457.1:p.Asn868Lys
NM_001282677.1:c.2433C>A	NP_001269606.1:p.Asn811Lys
NM_001282678.1:c.1980C>A	NP_001269607.1:p.Asn660Lys
XM_005250433.3:c.855C>A	XP_005250490.1:p.Asn285Lys
XR_242246.3:n.2700C>A
XM_017012319.2:c.855C>A	XP_016867808.1:p.Asn285Lys
XR_001744808.2:n.1631C>A
XR_242246.5:n.2651C>A
NM_000466.3:c.2604C>A MANE Select	NP_000457.1:p.Asn868Lys
NM_001282677.2:c.2433C>A	NP_001269606.1:p.Asn811Lys
NM_001282678.2:c.1980C>A	NP_001269607.1:p.Asn660Lys