Canonical Allele Identifier: CA4341026

Gene: PEX1

Linked Data

• ClinVar Variation Id: 977301
• ClinVar RCV Id: RCV001254896 ; RCV002570573
• dbSNP Id: rs757305859
• ExAC: 7:92126066 A / G
• gnomAD v2: 7-92126066-A-G
• gnomAD v3: 7-92496752-A-G
• gnomAD v4: 7-92496752-A-G
• COSMIC: COSM1755423
• MyVariant Identifiers: chr7:g.92126066A>G (hg19) ; chr7:g.92496752A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496752A>G , CM000669.2:g.92496752A>G	GRCh38
NC_000007.13:g.92126066A>G , CM000669.1:g.92126066A>G	GRCh37
NC_000007.12:g.91964002A>G	NCBI36
NG_008341.1:g.36780T>C
NG_008341.2:g.36780T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2744T>C MANE Select	ENSP00000248633.4:p.Ile915Thr
ENST00000248633.8:c.2744T>C	ENSP00000248633.4:p.Ile915Thr
ENST00000428214.5:c.2573T>C	ENSP00000394413.1:p.Ile858Thr
ENST00000438045.5:c.1778T>C	ENSP00000410438.1:p.Ile593Thr
ENST00000484913.5:n.2783T>C
ENST00000496420.5:n.2636T>C
NM_000466.2:c.2744T>C	NP_000457.1:p.Ile915Thr
NM_001282677.1:c.2573T>C	NP_001269606.1:p.Ile858Thr
NM_001282678.1:c.2120T>C	NP_001269607.1:p.Ile707Thr
XM_005250433.3:c.995T>C	XP_005250490.1:p.Ile332Thr
XR_242246.3:n.2840T>C
XM_017012319.2:c.995T>C	XP_016867808.1:p.Ile332Thr
XR_001744808.2:n.1771T>C
XR_242246.5:n.2791T>C
NM_000466.3:c.2744T>C MANE Select	NP_000457.1:p.Ile915Thr
NM_001282677.2:c.2573T>C	NP_001269606.1:p.Ile858Thr
NM_001282678.2:c.2120T>C	NP_001269607.1:p.Ile707Thr