Canonical Allele Identifier: CA368173692

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92129071A>C (hg19) ; chr7:g.92499757A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499757A>C , CM000669.2:g.92499757A>C	GRCh38
NC_000007.13:g.92129071A>C , CM000669.1:g.92129071A>C	GRCh37
NC_000007.12:g.91967007A>C	NCBI36
NG_008341.1:g.33775T>G
NG_008341.2:g.33775T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2665T>G MANE Select	ENSP00000248633.4:p.Leu889Val
ENST00000248633.8:c.2665T>G	ENSP00000248633.4:p.Leu889Val
ENST00000428214.5:c.2494T>G	ENSP00000394413.1:p.Leu832Val
ENST00000438045.5:c.1699T>G	ENSP00000410438.1:p.Leu567Val
ENST00000484913.5:n.2704T>G
ENST00000496420.5:n.2557T>G
NM_000466.2:c.2665T>G	NP_000457.1:p.Leu889Val
NM_001282677.1:c.2494T>G	NP_001269606.1:p.Leu832Val
NM_001282678.1:c.2041T>G	NP_001269607.1:p.Leu681Val
XM_005250433.3:c.916T>G	XP_005250490.1:p.Leu306Val
XR_242246.3:n.2761T>G
XM_017012319.2:c.916T>G	XP_016867808.1:p.Leu306Val
XR_001744808.2:n.1692T>G
XR_242246.5:n.2712T>G
NM_000466.3:c.2665T>G MANE Select	NP_000457.1:p.Leu889Val
NM_001282677.2:c.2494T>G	NP_001269606.1:p.Leu832Val
NM_001282678.2:c.2041T>G	NP_001269607.1:p.Leu681Val