Canonical Allele Identifier: CA368183998

Gene: PEX1

Linked Data

• dbSNP Id: rs1437041310
• gnomAD v2: 7-92134180-A-C
• gnomAD v4: 7-92504866-A-C
• MyVariant Identifiers: chr7:g.92134180A>C (hg19) ; chr7:g.92504866A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504866A>C , CM000669.2:g.92504866A>C	GRCh38
NC_000007.13:g.92134180A>C , CM000669.1:g.92134180A>C	GRCh37
NC_000007.12:g.91972116A>C	NCBI36
NG_008341.1:g.28666T>G
NG_008341.2:g.28666T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1937T>G MANE Select	ENSP00000248633.4:p.Val646Gly
ENST00000248633.8:c.1937T>G	ENSP00000248633.4:p.Val646Gly
ENST00000428214.5:c.1900+1382T>G	ENSP00000394413.1:n.1900+1382T>G
ENST00000438045.5:c.971T>G	ENSP00000410438.1:p.Val324Gly
ENST00000484913.5:n.1976T>G
ENST00000496420.5:n.1613T>G
NM_000466.2:c.1937T>G	NP_000457.1:p.Val646Gly
NM_001282677.1:c.1900+1382T>G	NP_001269606.1:n.1900+1382T>G
NM_001282678.1:c.1313T>G	NP_001269607.1:p.Val438Gly
XM_005250433.3:c.188T>G	XP_005250490.1:p.Val63Gly
XR_242246.3:n.2033T>G
XM_017012319.2:c.188T>G	XP_016867808.1:p.Val63Gly
XR_001744808.2:n.964T>G
XR_242246.5:n.1984T>G
NM_000466.3:c.1937T>G MANE Select	NP_000457.1:p.Val646Gly
NM_001282677.2:c.1900+1382T>G	NP_001269606.1:n.1900+1382T>G
NM_001282678.2:c.1313T>G	NP_001269607.1:p.Val438Gly