Canonical Allele Identifier: CA4341579

Gene: PEX1

Linked Data

• ClinVar Variation Id: 849101
• ClinVar RCV Id: RCV001277062
• dbSNP Id: rs775093154
• ExAC: 7:92147288 T / G
• gnomAD v2: 7-92147288-T-G
• gnomAD v3: 7-92517974-T-G
• gnomAD v4: 7-92517974-T-G
• MyVariant Identifiers: chr7:g.92147288T>G (hg19) ; chr7:g.92517974T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517974T>G , CM000669.2:g.92517974T>G	GRCh38
NC_000007.13:g.92147288T>G , CM000669.1:g.92147288T>G	GRCh37
NC_000007.12:g.91985224T>G	NCBI36
NG_008341.1:g.15558A>C
NG_008341.2:g.15558A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.541A>C MANE Select	ENSP00000248633.4:p.Thr181Pro
ENST00000248633.8:c.541A>C	ENSP00000248633.4:p.Thr181Pro
ENST00000428214.5:c.541A>C	ENSP00000394413.1:p.Thr181Pro
ENST00000438045.5:c.274-4007A>C	ENSP00000410438.1:n.274-4007A>C
ENST00000484913.5:n.580A>C
NM_000466.2:c.541A>C	NP_000457.1:p.Thr181Pro
NM_001282677.1:c.541A>C	NP_001269606.1:p.Thr181Pro
NM_001282678.1:c.-84A>C	NP_001269607.1:n.-84A>C
XR_242246.3:n.637A>C
XR_242246.5:n.588A>C
NM_000466.3:c.541A>C MANE Select	NP_000457.1:p.Thr181Pro
NM_001282677.2:c.541A>C	NP_001269606.1:p.Thr181Pro
NM_001282678.2:c.-84A>C	NP_001269607.1:n.-84A>C