Canonical Allele Identifier: CA368178001

Gene: PEX1

Linked Data

• gnomAD v4: 7-92502001-G-C
• MyVariant Identifiers: chr7:g.92131315G>C (hg19) ; chr7:g.92502001G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502001G>C , CM000669.2:g.92502001G>C	GRCh38
NC_000007.13:g.92131315G>C , CM000669.1:g.92131315G>C	GRCh37
NC_000007.12:g.91969251G>C	NCBI36
NG_008341.1:g.31531C>G
NG_008341.2:g.31531C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2305C>G MANE Select	ENSP00000248633.4:p.Leu769Val
ENST00000248633.8:c.2305C>G	ENSP00000248633.4:p.Leu769Val
ENST00000428214.5:c.2134C>G	ENSP00000394413.1:p.Leu712Val
ENST00000438045.5:c.1339C>G	ENSP00000410438.1:p.Leu447Val
ENST00000484913.5:n.2344C>G
ENST00000496092.1:n.103C>G
ENST00000496420.5:n.1981C>G
NM_000466.2:c.2305C>G	NP_000457.1:p.Leu769Val
NM_001282677.1:c.2134C>G	NP_001269606.1:p.Leu712Val
NM_001282678.1:c.1681C>G	NP_001269607.1:p.Leu561Val
XM_005250433.3:c.556C>G	XP_005250490.1:p.Leu186Val
XR_242246.3:n.2401C>G
XM_017012319.2:c.556C>G	XP_016867808.1:p.Leu186Val
XR_001744808.2:n.1332C>G
XR_242246.5:n.2352C>G
NM_000466.3:c.2305C>G MANE Select	NP_000457.1:p.Leu769Val
NM_001282677.2:c.2134C>G	NP_001269606.1:p.Leu712Val
NM_001282678.2:c.1681C>G	NP_001269607.1:p.Leu561Val