Canonical Allele Identifier: CA368202315

Gene: PEX1

Linked Data

• dbSNP Id: rs1562867336
• gnomAD v4: 7-92518195-T-C
• MyVariant Identifiers: chr7:g.92147509T>C (hg19) ; chr7:g.92518195T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518195T>C , CM000669.2:g.92518195T>C	GRCh38
NC_000007.13:g.92147509T>C , CM000669.1:g.92147509T>C	GRCh37
NC_000007.12:g.91985445T>C	NCBI36
NG_008341.1:g.15337A>G
NG_008341.2:g.15337A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.418A>G MANE Select	ENSP00000248633.4:p.Lys140Glu
ENST00000248633.8:c.418A>G	ENSP00000248633.4:p.Lys140Glu
ENST00000428214.5:c.418A>G	ENSP00000394413.1:p.Lys140Glu
ENST00000438045.5:c.273+3907A>G	ENSP00000410438.1:n.273+3907A>G
ENST00000484913.5:n.457A>G
NM_000466.2:c.418A>G	NP_000457.1:p.Lys140Glu
NM_001282677.1:c.418A>G	NP_001269606.1:p.Lys140Glu
NM_001282678.1:c.-207A>G	NP_001269607.1:n.-207A>G
XR_242246.3:n.514A>G
XR_242246.5:n.465A>G
NM_000466.3:c.418A>G MANE Select	NP_000457.1:p.Lys140Glu
NM_001282677.2:c.418A>G	NP_001269606.1:p.Lys140Glu
NM_001282678.2:c.-207A>G	NP_001269607.1:n.-207A>G