Canonical Allele Identifier: CA4341209

Gene: PEX1

Linked Data

• ClinVar Variation Id: 594915
• ClinVar RCV Id: RCV000730317 ; RCV001855635
• dbSNP Id: rs112747515
• ExAC: 7:92132497 A / G
• gnomAD v2: 7-92132497-A-G
• gnomAD v3: 7-92503183-A-G
• gnomAD v4: 7-92503183-A-G
• MyVariant Identifiers: chr7:g.92132497A>G (hg19) ; chr7:g.92503183A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503183A>G , CM000669.2:g.92503183A>G	GRCh38
NC_000007.13:g.92132497A>G , CM000669.1:g.92132497A>G	GRCh37
NC_000007.12:g.91970433A>G	NCBI36
NG_008341.1:g.30349T>C
NG_008341.2:g.30349T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2084T>C MANE Select	ENSP00000248633.4:p.Met695Thr
ENST00000248633.8:c.2084T>C	ENSP00000248633.4:p.Met695Thr
ENST00000428214.5:c.1913T>C	ENSP00000394413.1:p.Met638Thr
ENST00000438045.5:c.1118T>C	ENSP00000410438.1:p.Met373Thr
ENST00000484913.5:n.2123T>C
ENST00000496420.5:n.1760T>C
NM_000466.2:c.2084T>C	NP_000457.1:p.Met695Thr
NM_001282677.1:c.1913T>C	NP_001269606.1:p.Met638Thr
NM_001282678.1:c.1460T>C	NP_001269607.1:p.Met487Thr
XM_005250433.3:c.335T>C	XP_005250490.1:p.Met112Thr
XR_242246.3:n.2180T>C
XM_017012319.2:c.335T>C	XP_016867808.1:p.Met112Thr
XR_001744808.2:n.1111T>C
XR_242246.5:n.2131T>C
NM_000466.3:c.2084T>C MANE Select	NP_000457.1:p.Met695Thr
NM_001282677.2:c.1913T>C	NP_001269606.1:p.Met638Thr
NM_001282678.2:c.1460T>C	NP_001269607.1:p.Met487Thr