Canonical Allele Identifier: CA4341597

Gene: PEX1

Linked Data

• dbSNP Id: rs185192121
• ExAC: 7:92147409 A / G
• gnomAD v2: 7-92147409-A-G
• gnomAD v3: 7-92518095-A-G
• gnomAD v4: 7-92518095-A-G
• MyVariant Identifiers: chr7:g.92147409A>G (hg19) ; chr7:g.92518095A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518095A>G , CM000669.2:g.92518095A>G	GRCh38
NC_000007.13:g.92147409A>G , CM000669.1:g.92147409A>G	GRCh37
NC_000007.12:g.91985345A>G	NCBI36
NG_008341.1:g.15437T>C
NG_008341.2:g.15437T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.472+46T>C MANE Select	ENSP00000248633.4:n.472+46T>C
ENST00000248633.8:c.472+46T>C	ENSP00000248633.4:n.472+46T>C
ENST00000428214.5:c.472+46T>C	ENSP00000394413.1:n.472+46T>C
ENST00000438045.5:c.273+4007T>C	ENSP00000410438.1:n.273+4007T>C
ENST00000484913.5:n.511+46T>C
NM_000466.2:c.472+46T>C	NP_000457.1:n.472+46T>C
NM_001282677.1:c.472+46T>C	NP_001269606.1:n.472+46T>C
NM_001282678.1:c.-153+46T>C	NP_001269607.1:n.-153+46T>C
XR_242246.3:n.568+46T>C
XR_242246.5:n.519+46T>C
NM_000466.3:c.472+46T>C MANE Select	NP_000457.1:n.472+46T>C
NM_001282677.2:c.472+46T>C	NP_001269606.1:n.472+46T>C
NM_001282678.2:c.-153+46T>C	NP_001269607.1:n.-153+46T>C