Canonical Allele Identifier: CA368200711

Gene: PEX1

Linked Data

• ClinVar Variation Id: 838437
• ClinVar RCV Id: RCV001039984
• dbSNP Id: rs1792871862
• MyVariant Identifiers: chr7:g.92147182T>C (hg19) ; chr7:g.92517868T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517868T>C , CM000669.2:g.92517868T>C	GRCh38
NC_000007.13:g.92147182T>C , CM000669.1:g.92147182T>C	GRCh37
NC_000007.12:g.91985118T>C	NCBI36
NG_008341.1:g.15664A>G
NG_008341.2:g.15664A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.647A>G MANE Select	ENSP00000248633.4:p.Lys216Arg
ENST00000248633.8:c.647A>G	ENSP00000248633.4:p.Lys216Arg
ENST00000428214.5:c.647A>G	ENSP00000394413.1:p.Lys216Arg
ENST00000438045.5:c.274-3901A>G	ENSP00000410438.1:n.274-3901A>G
ENST00000484913.5:n.686A>G
NM_000466.2:c.647A>G	NP_000457.1:p.Lys216Arg
NM_001282677.1:c.647A>G	NP_001269606.1:p.Lys216Arg
NM_001282678.1:c.23A>G	NP_001269607.1:p.Lys8Arg
XR_242246.3:n.743A>G
XR_242246.5:n.694A>G
NM_000466.3:c.647A>G MANE Select	NP_000457.1:p.Lys216Arg
NM_001282677.2:c.647A>G	NP_001269606.1:p.Lys216Arg
NM_001282678.2:c.23A>G	NP_001269607.1:p.Lys8Arg