Canonical Allele Identifier: CA368174109

Gene: PEX1

Linked Data

• dbSNP Id: rs1243145516
• gnomAD v2: 7-92129125-T-C
• gnomAD v4: 7-92499811-T-C
• MyVariant Identifiers: chr7:g.92129125T>C (hg19) ; chr7:g.92499811T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2611A>G MANE Select	ENSP00000248633.4:p.Ile871Val
ENST00000248633.8:c.2611A>G	ENSP00000248633.4:p.Ile871Val
ENST00000428214.5:c.2440A>G	ENSP00000394413.1:p.Ile814Val
ENST00000438045.5:c.1645A>G	ENSP00000410438.1:p.Ile549Val
ENST00000484913.5:n.2650A>G
ENST00000496420.5:n.2503A>G
NM_000466.2:c.2611A>G	NP_000457.1:p.Ile871Val
NM_001282677.1:c.2440A>G	NP_001269606.1:p.Ile814Val
NM_001282678.1:c.1987A>G	NP_001269607.1:p.Ile663Val
XM_005250433.3:c.862A>G	XP_005250490.1:p.Ile288Val
XR_242246.3:n.2707A>G
XM_017012319.2:c.862A>G	XP_016867808.1:p.Ile288Val
XR_001744808.2:n.1638A>G
XR_242246.5:n.2658A>G
NM_000466.3:c.2611A>G MANE Select	NP_000457.1:p.Ile871Val
NM_001282677.2:c.2440A>G	NP_001269606.1:p.Ile814Val
NM_001282678.2:c.1987A>G	NP_001269607.1:p.Ile663Val