Canonical Allele Identifier: CA915945348

Gene: PEX1

Linked Data

• ClinVar Variation Id: 638320
• ClinVar RCV Id: RCV000790935
• dbSNP Id: rs1585224298

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496707A>G , CM000669.2:g.92496707A>G	GRCh38
NC_000007.13:g.92126021A>G , CM000669.1:g.92126021A>G	GRCh37
NC_000007.12:g.91963957A>G	NCBI36
NG_008341.1:g.36825T>C
NG_008341.2:g.36825T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2783+6T>C MANE Select	ENSP00000248633.4:n.2783+6T>C
ENST00000248633.8:c.2783+6T>C	ENSP00000248633.4:n.2783+6T>C
ENST00000428214.5:c.2612+6T>C	ENSP00000394413.1:n.2612+6T>C
ENST00000438045.5:c.1817+6T>C	ENSP00000410438.1:n.1817+6T>C
ENST00000484913.5:n.2822+6T>C
ENST00000496420.5:n.2675+6T>C
NM_000466.2:c.2783+6T>C	NP_000457.1:n.2783+6T>C
NM_001282677.1:c.2612+6T>C	NP_001269606.1:n.2612+6T>C
NM_001282678.1:c.2159+6T>C	NP_001269607.1:n.2159+6T>C
XM_005250433.3:c.1034+6T>C	XP_005250490.1:n.1034+6T>C
XR_242246.3:n.2879+6T>C
XM_017012319.2:c.1034+6T>C	XP_016867808.1:n.1034+6T>C
XR_001744808.2:n.1810+6T>C
XR_242246.5:n.2830+6T>C
NM_000466.3:c.2783+6T>C MANE Select	NP_000457.1:n.2783+6T>C
NM_001282677.2:c.2612+6T>C	NP_001269606.1:n.2612+6T>C
NM_001282678.2:c.2159+6T>C	NP_001269607.1:n.2159+6T>C