Canonical Allele Identifier: CA4341592

Gene: PEX1

Linked Data

• dbSNP Id: rs139573333
• ExAC: 7:92147390 C / A
• gnomAD v2: 7-92147390-C-A
• gnomAD v3: 7-92518076-C-A
• gnomAD v4: 7-92518076-C-A
• MyVariant Identifiers: chr7:g.92147390C>A (hg19) ; chr7:g.92518076C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518076C>A , CM000669.2:g.92518076C>A	GRCh38
NC_000007.13:g.92147390C>A , CM000669.1:g.92147390C>A	GRCh37
NC_000007.12:g.91985326C>A	NCBI36
NG_008341.1:g.15456G>T
NG_008341.2:g.15456G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.473-34G>T MANE Select	ENSP00000248633.4:n.473-34G>T
ENST00000248633.8:c.473-34G>T	ENSP00000248633.4:n.473-34G>T
ENST00000428214.5:c.473-34G>T	ENSP00000394413.1:n.473-34G>T
ENST00000438045.5:c.273+4026G>T	ENSP00000410438.1:n.273+4026G>T
ENST00000484913.5:n.512-34G>T
NM_000466.2:c.473-34G>T	NP_000457.1:n.473-34G>T
NM_001282677.1:c.473-34G>T	NP_001269606.1:n.473-34G>T
NM_001282678.1:c.-152-34G>T	NP_001269607.1:n.-152-34G>T
XR_242246.3:n.569-34G>T
XR_242246.5:n.520-34G>T
NM_000466.3:c.473-34G>T MANE Select	NP_000457.1:n.473-34G>T
NM_001282677.2:c.473-34G>T	NP_001269606.1:n.473-34G>T
NM_001282678.2:c.-152-34G>T	NP_001269607.1:n.-152-34G>T