Canonical Allele Identifier: CA368198381

Gene: PEX1

Linked Data

• dbSNP Id: rs1293856021
• gnomAD v2: 7-92146777-T-C
• gnomAD v4: 7-92517463-T-C
• MyVariant Identifiers: chr7:g.92146777T>C (hg19) ; chr7:g.92517463T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517463T>C , CM000669.2:g.92517463T>C	GRCh38
NC_000007.13:g.92146777T>C , CM000669.1:g.92146777T>C	GRCh37
NC_000007.12:g.91984713T>C	NCBI36
NG_008341.1:g.16069A>G
NG_008341.2:g.16069A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1052A>G MANE Select	ENSP00000248633.4:p.Asn351Ser
ENST00000248633.8:c.1052A>G	ENSP00000248633.4:p.Asn351Ser
ENST00000428214.5:c.1052A>G	ENSP00000394413.1:p.Asn351Ser
ENST00000438045.5:c.274-3496A>G	ENSP00000410438.1:n.274-3496A>G
ENST00000484913.5:n.1091A>G
NM_000466.2:c.1052A>G	NP_000457.1:p.Asn351Ser
NM_001282677.1:c.1052A>G	NP_001269606.1:p.Asn351Ser
NM_001282678.1:c.428A>G	NP_001269607.1:p.Asn143Ser
XR_242246.3:n.1148A>G
XM_017012319.2:c.-615A>G	XP_016867808.1:n.-615A>G
XR_001744808.2:n.162A>G
XR_242246.5:n.1099A>G
NM_000466.3:c.1052A>G MANE Select	NP_000457.1:p.Asn351Ser
NM_001282677.2:c.1052A>G	NP_001269606.1:p.Asn351Ser
NM_001282678.2:c.428A>G	NP_001269607.1:p.Asn143Ser