Canonical Allele Identifier: CA368200811

Gene: PEX1

Linked Data

• ClinVar Variation Id: 594510
• ClinVar RCV Id: RCV000729811
• dbSNP Id: rs1562866915
• MyVariant Identifiers: chr7:g.92147199C>G (hg19) ; chr7:g.92517885C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517885C>G , CM000669.2:g.92517885C>G	GRCh38
NC_000007.13:g.92147199C>G , CM000669.1:g.92147199C>G	GRCh37
NC_000007.12:g.91985135C>G	NCBI36
NG_008341.1:g.15647G>C
NG_008341.2:g.15647G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.630G>C MANE Select	ENSP00000248633.4:p.Met210Ile
ENST00000248633.8:c.630G>C	ENSP00000248633.4:p.Met210Ile
ENST00000428214.5:c.630G>C	ENSP00000394413.1:p.Met210Ile
ENST00000438045.5:c.274-3918G>C	ENSP00000410438.1:n.274-3918G>C
ENST00000484913.5:n.669G>C
NM_000466.2:c.630G>C	NP_000457.1:p.Met210Ile
NM_001282677.1:c.630G>C	NP_001269606.1:p.Met210Ile
NM_001282678.1:c.6G>C	NP_001269607.1:p.Met2Ile
XR_242246.3:n.726G>C
XR_242246.5:n.677G>C
NM_000466.3:c.630G>C MANE Select	NP_000457.1:p.Met210Ile
NM_001282677.2:c.630G>C	NP_001269606.1:p.Met210Ile
NM_001282678.2:c.6G>C	NP_001269607.1:p.Met2Ile