Canonical Allele Identifier: CA368174106

Gene: PEX1

Linked Data

• dbSNP Id: rs1243145516
• gnomAD v2: 7-92129125-T-A
• MyVariant Identifiers: chr7:g.92129125T>A (hg19) ; chr7:g.92499811T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499811T>A , CM000669.2:g.92499811T>A	GRCh38
NC_000007.13:g.92129125T>A , CM000669.1:g.92129125T>A	GRCh37
NC_000007.12:g.91967061T>A	NCBI36
NG_008341.1:g.33721A>T
NG_008341.2:g.33721A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2611A>T MANE Select	ENSP00000248633.4:p.Ile871Leu
ENST00000248633.8:c.2611A>T	ENSP00000248633.4:p.Ile871Leu
ENST00000428214.5:c.2440A>T	ENSP00000394413.1:p.Ile814Leu
ENST00000438045.5:c.1645A>T	ENSP00000410438.1:p.Ile549Leu
ENST00000484913.5:n.2650A>T
ENST00000496420.5:n.2503A>T
NM_000466.2:c.2611A>T	NP_000457.1:p.Ile871Leu
NM_001282677.1:c.2440A>T	NP_001269606.1:p.Ile814Leu
NM_001282678.1:c.1987A>T	NP_001269607.1:p.Ile663Leu
XM_005250433.3:c.862A>T	XP_005250490.1:p.Ile288Leu
XR_242246.3:n.2707A>T
XM_017012319.2:c.862A>T	XP_016867808.1:p.Ile288Leu
XR_001744808.2:n.1638A>T
XR_242246.5:n.2658A>T
NM_000466.3:c.2611A>T MANE Select	NP_000457.1:p.Ile871Leu
NM_001282677.2:c.2440A>T	NP_001269606.1:p.Ile814Leu
NM_001282678.2:c.1987A>T	NP_001269607.1:p.Ile663Leu