Canonical Allele Identifier: CA4341653

Gene: PEX1

Linked Data

• dbSNP Id: rs755740801
• ExAC: 7:92148436 C / G
• gnomAD v2: 7-92148436-C-G
• gnomAD v3: 7-92519122-C-G
• gnomAD v4: 7-92519122-C-G
• MyVariant Identifiers: chr7:g.92148436C>G (hg19) ; chr7:g.92519122C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519122C>G , CM000669.2:g.92519122C>G	GRCh38
NC_000007.13:g.92148436C>G , CM000669.1:g.92148436C>G	GRCh37
NC_000007.12:g.91986372C>G	NCBI36
NG_008341.1:g.14410G>C
NG_008341.2:g.14410G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.274-44G>C MANE Select	ENSP00000248633.4:n.274-44G>C
ENST00000248633.8:c.274-44G>C	ENSP00000248633.4:n.274-44G>C
ENST00000428214.5:c.274-44G>C	ENSP00000394413.1:n.274-44G>C
ENST00000438045.5:c.273+2980G>C	ENSP00000410438.1:n.273+2980G>C
ENST00000484913.5:n.278-44G>C
NM_000466.2:c.274-44G>C	NP_000457.1:n.274-44G>C
NM_001282677.1:c.274-44G>C	NP_001269606.1:n.274-44G>C
NM_001282678.1:c.-386-44G>C	NP_001269607.1:n.-386-44G>C
XR_242246.3:n.370-44G>C
XR_242246.5:n.321-44G>C
NM_000466.3:c.274-44G>C MANE Select	NP_000457.1:n.274-44G>C
NM_001282677.2:c.274-44G>C	NP_001269606.1:n.274-44G>C
NM_001282678.2:c.-386-44G>C	NP_001269607.1:n.-386-44G>C