Canonical Allele Identifier: CA4341486

Gene: PEX1

Linked Data

• dbSNP Id: rs753294998
• ExAC: 7:92146696 T / C
• gnomAD v2: 7-92146696-T-C
• gnomAD v4: 7-92517382-T-C
• MyVariant Identifiers: chr7:g.92146696T>C (hg19) ; chr7:g.92517382T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517382T>C , CM000669.2:g.92517382T>C	GRCh38
NC_000007.13:g.92146696T>C , CM000669.1:g.92146696T>C	GRCh37
NC_000007.12:g.91984632T>C	NCBI36
NG_008341.1:g.16150A>G
NG_008341.2:g.16150A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1133A>G MANE Select	ENSP00000248633.4:p.Asp378Gly
ENST00000248633.8:c.1133A>G	ENSP00000248633.4:p.Asp378Gly
ENST00000422866.1:c.34A>G
ENST00000428214.5:c.1133A>G	ENSP00000394413.1:p.Asp378Gly
ENST00000438045.5:c.274-3415A>G	ENSP00000410438.1:n.274-3415A>G
ENST00000484913.5:n.1172A>G
NM_000466.2:c.1133A>G	NP_000457.1:p.Asp378Gly
NM_001282677.1:c.1133A>G	NP_001269606.1:p.Asp378Gly
NM_001282678.1:c.509A>G	NP_001269607.1:p.Asp170Gly
XR_242246.3:n.1229A>G
XM_017012319.2:c.-534A>G	XP_016867808.1:n.-534A>G
XR_001744808.2:n.243A>G
XR_242246.5:n.1180A>G
NM_000466.3:c.1133A>G MANE Select	NP_000457.1:p.Asp378Gly
NM_001282677.2:c.1133A>G	NP_001269606.1:p.Asp378Gly
NM_001282678.2:c.509A>G	NP_001269607.1:p.Asp170Gly