Canonical Allele Identifier: CA368184903

Gene: PEX1

Linked Data

• dbSNP Id: rs1393403749
• gnomAD v2: 7-92135605-T-G
• gnomAD v3: 7-92506291-T-G
• gnomAD v4: 7-92506291-T-G
• MyVariant Identifiers: chr7:g.92135605T>G (hg19) ; chr7:g.92506291T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506291T>G , CM000669.2:g.92506291T>G	GRCh38
NC_000007.13:g.92135605T>G , CM000669.1:g.92135605T>G	GRCh37
NC_000007.12:g.91973541T>G	NCBI36
NG_008341.1:g.27241A>C
NG_008341.2:g.27241A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1857A>C MANE Select	ENSP00000248633.4:p.Lys619Asn
ENST00000248633.8:c.1857A>C	ENSP00000248633.4:p.Lys619Asn
ENST00000422866.1:c.675A>C
ENST00000428214.5:c.1857A>C	ENSP00000394413.1:p.Lys619Asn
ENST00000438045.5:c.891A>C	ENSP00000410438.1:p.Lys297Asn
ENST00000484913.5:n.1896A>C
ENST00000496420.5:n.1533A>C
NM_000466.2:c.1857A>C	NP_000457.1:p.Lys619Asn
NM_001282677.1:c.1857A>C	NP_001269606.1:p.Lys619Asn
NM_001282678.1:c.1233A>C	NP_001269607.1:p.Lys411Asn
XM_005250433.3:c.108A>C	XP_005250490.1:p.Lys36Asn
XR_242246.3:n.1953A>C
XM_017012319.2:c.108A>C	XP_016867808.1:p.Lys36Asn
XR_001744808.2:n.884A>C
XR_242246.5:n.1904A>C
NM_000466.3:c.1857A>C MANE Select	NP_000457.1:p.Lys619Asn
NM_001282677.2:c.1857A>C	NP_001269606.1:p.Lys619Asn
NM_001282678.2:c.1233A>C	NP_001269607.1:p.Lys411Asn