Canonical Allele Identifier: CA4341200

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1307482
• ClinVar RCV Id: RCV001760900 ; RCV002034461 ; RCV003247012
• dbSNP Id: rs147069266
• ExAC: 7:92132386 T / C
• gnomAD v2: 7-92132386-T-C
• gnomAD v3: 7-92503072-T-C
• gnomAD v4: 7-92503072-T-C
• MyVariant Identifiers: chr7:g.92132386T>C (hg19) ; chr7:g.92503072T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503072T>C , CM000669.2:g.92503072T>C	GRCh38
NC_000007.13:g.92132386T>C , CM000669.1:g.92132386T>C	GRCh37
NC_000007.12:g.91970322T>C	NCBI36
NG_008341.1:g.30460A>G
NG_008341.2:g.30460A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2195A>G MANE Select	ENSP00000248633.4:p.Gln732Arg
ENST00000248633.8:c.2195A>G	ENSP00000248633.4:p.Gln732Arg
ENST00000428214.5:c.2024A>G	ENSP00000394413.1:p.Gln675Arg
ENST00000438045.5:c.1229A>G	ENSP00000410438.1:p.Gln410Arg
ENST00000484913.5:n.2234A>G
ENST00000496420.5:n.1871A>G
NM_000466.2:c.2195A>G	NP_000457.1:p.Gln732Arg
NM_001282677.1:c.2024A>G	NP_001269606.1:p.Gln675Arg
NM_001282678.1:c.1571A>G	NP_001269607.1:p.Gln524Arg
XM_005250433.3:c.446A>G	XP_005250490.1:p.Gln149Arg
XR_242246.3:n.2291A>G
XM_017012319.2:c.446A>G	XP_016867808.1:p.Gln149Arg
XR_001744808.2:n.1222A>G
XR_242246.5:n.2242A>G
NM_000466.3:c.2195A>G MANE Select	NP_000457.1:p.Gln732Arg
NM_001282677.2:c.2024A>G	NP_001269606.1:p.Gln675Arg
NM_001282678.2:c.1571A>G	NP_001269607.1:p.Gln524Arg