Canonical Allele Identifier: CA368183317

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2682981
• ClinVar RCV Id: RCV003481848
• MyVariant Identifiers: chr7:g.92134100C>G (hg19) ; chr7:g.92504786C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504786C>G , CM000669.2:g.92504786C>G	GRCh38
NC_000007.13:g.92134100C>G , CM000669.1:g.92134100C>G	GRCh37
NC_000007.12:g.91972036C>G	NCBI36
NG_008341.1:g.28746G>C
NG_008341.2:g.28746G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2017G>C MANE Select	ENSP00000248633.4:p.Val673Leu
ENST00000248633.8:c.2017G>C	ENSP00000248633.4:p.Val673Leu
ENST00000428214.5:c.1900+1462G>C	ENSP00000394413.1:n.1900+1462G>C
ENST00000438045.5:c.1051G>C	ENSP00000410438.1:p.Val351Leu
ENST00000484913.5:n.2056G>C
ENST00000496420.5:n.1693G>C
NM_000466.2:c.2017G>C	NP_000457.1:p.Val673Leu
NM_001282677.1:c.1900+1462G>C	NP_001269606.1:n.1900+1462G>C
NM_001282678.1:c.1393G>C	NP_001269607.1:p.Val465Leu
XM_005250433.3:c.268G>C	XP_005250490.1:p.Val90Leu
XR_242246.3:n.2113G>C
XM_017012319.2:c.268G>C	XP_016867808.1:p.Val90Leu
XR_001744808.2:n.1044G>C
XR_242246.5:n.2064G>C
NM_000466.3:c.2017G>C MANE Select	NP_000457.1:p.Val673Leu
NM_001282677.2:c.1900+1462G>C	NP_001269606.1:n.1900+1462G>C
NM_001282678.2:c.1393G>C	NP_001269607.1:p.Val465Leu