Canonical Allele Identifier: CA368181301

Gene: PEX1

Linked Data

• dbSNP Id: rs147069266
• gnomAD v3: 7-92503072-T-G
• gnomAD v4: 7-92503072-T-G
• MyVariant Identifiers: chr7:g.92132386T>G (hg19) ; chr7:g.92503072T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2195A>C MANE Select	ENSP00000248633.4:p.Gln732Pro
ENST00000248633.8:c.2195A>C	ENSP00000248633.4:p.Gln732Pro
ENST00000428214.5:c.2024A>C	ENSP00000394413.1:p.Gln675Pro
ENST00000438045.5:c.1229A>C	ENSP00000410438.1:p.Gln410Pro
ENST00000484913.5:n.2234A>C
ENST00000496420.5:n.1871A>C
NM_000466.2:c.2195A>C	NP_000457.1:p.Gln732Pro
NM_001282677.1:c.2024A>C	NP_001269606.1:p.Gln675Pro
NM_001282678.1:c.1571A>C	NP_001269607.1:p.Gln524Pro
XM_005250433.3:c.446A>C	XP_005250490.1:p.Gln149Pro
XR_242246.3:n.2291A>C
XM_017012319.2:c.446A>C	XP_016867808.1:p.Gln149Pro
XR_001744808.2:n.1222A>C
XR_242246.5:n.2242A>C
NM_000466.3:c.2195A>C MANE Select	NP_000457.1:p.Gln732Pro
NM_001282677.2:c.2024A>C	NP_001269606.1:p.Gln675Pro
NM_001282678.2:c.1571A>C	NP_001269607.1:p.Gln524Pro