Canonical Allele Identifier: CA368181567

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1805623
• ClinVar RCV Id: RCV002472041
• MyVariant Identifiers: chr7:g.92132416A>G (hg19) ; chr7:g.92503102A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503102A>G , CM000669.2:g.92503102A>G	GRCh38
NC_000007.13:g.92132416A>G , CM000669.1:g.92132416A>G	GRCh37
NC_000007.12:g.91970352A>G	NCBI36
NG_008341.1:g.30430T>C
NG_008341.2:g.30430T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2165T>C MANE Select	ENSP00000248633.4:p.Leu722Pro
ENST00000248633.8:c.2165T>C	ENSP00000248633.4:p.Leu722Pro
ENST00000428214.5:c.1994T>C	ENSP00000394413.1:p.Leu665Pro
ENST00000438045.5:c.1199T>C	ENSP00000410438.1:p.Leu400Pro
ENST00000484913.5:n.2204T>C
ENST00000496420.5:n.1841T>C
NM_000466.2:c.2165T>C	NP_000457.1:p.Leu722Pro
NM_001282677.1:c.1994T>C	NP_001269606.1:p.Leu665Pro
NM_001282678.1:c.1541T>C	NP_001269607.1:p.Leu514Pro
XM_005250433.3:c.416T>C	XP_005250490.1:p.Leu139Pro
XR_242246.3:n.2261T>C
XM_017012319.2:c.416T>C	XP_016867808.1:p.Leu139Pro
XR_001744808.2:n.1192T>C
XR_242246.5:n.2212T>C
NM_000466.3:c.2165T>C MANE Select	NP_000457.1:p.Leu722Pro
NM_001282677.2:c.1994T>C	NP_001269606.1:p.Leu665Pro
NM_001282678.2:c.1541T>C	NP_001269607.1:p.Leu514Pro