Canonical Allele Identifier: CA368180920

Gene: PEX1

Linked Data

• ClinVar Variation Id: 871124
• ClinVar RCV Id: RCV001090901
• dbSNP Id: rs1792005848
• MyVariant Identifiers: chr7:g.92132353A>G (hg19) ; chr7:g.92503039A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503039A>G , CM000669.2:g.92503039A>G	GRCh38
NC_000007.13:g.92132353A>G , CM000669.1:g.92132353A>G	GRCh37
NC_000007.12:g.91970289A>G	NCBI36
NG_008341.1:g.30493T>C
NG_008341.2:g.30493T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2226+2T>C MANE Select	ENSP00000248633.4:n.2226+2T>C
ENST00000248633.8:c.2226+2T>C	ENSP00000248633.4:n.2226+2T>C
ENST00000428214.5:c.2055+2T>C	ENSP00000394413.1:n.2055+2T>C
ENST00000438045.5:c.1260+2T>C	ENSP00000410438.1:n.1260+2T>C
ENST00000484913.5:n.2265+2T>C
ENST00000496092.1:n.24+2T>C
ENST00000496420.5:n.1902+2T>C
NM_000466.2:c.2226+2T>C	NP_000457.1:n.2226+2T>C
NM_001282677.1:c.2055+2T>C	NP_001269606.1:n.2055+2T>C
NM_001282678.1:c.1602+2T>C	NP_001269607.1:n.1602+2T>C
XM_005250433.3:c.477+2T>C	XP_005250490.1:n.477+2T>C
XR_242246.3:n.2322+2T>C
XM_017012319.2:c.477+2T>C	XP_016867808.1:n.477+2T>C
XR_001744808.2:n.1253+2T>C
XR_242246.5:n.2273+2T>C
NM_000466.3:c.2226+2T>C MANE Select	NP_000457.1:n.2226+2T>C
NM_001282677.2:c.2055+2T>C	NP_001269606.1:n.2055+2T>C
NM_001282678.2:c.1602+2T>C	NP_001269607.1:n.1602+2T>C