Canonical Allele Identifier: CA4341221

Gene: PEX1

Linked Data

• dbSNP Id: rs753978329
• ExAC: 7:92134014 C / G
• gnomAD v2: 7-92134014-C-G
• gnomAD v4: 7-92504700-C-G
• MyVariant Identifiers: chr7:g.92134014C>G (hg19) ; chr7:g.92504700C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504700C>G , CM000669.2:g.92504700C>G	GRCh38
NC_000007.13:g.92134014C>G , CM000669.1:g.92134014C>G	GRCh37
NC_000007.12:g.91971950C>G	NCBI36
NG_008341.1:g.28832G>C
NG_008341.2:g.28832G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2071+32G>C MANE Select	ENSP00000248633.4:n.2071+32G>C
ENST00000248633.8:c.2071+32G>C	ENSP00000248633.4:n.2071+32G>C
ENST00000428214.5:c.1901-1505G>C	ENSP00000394413.1:n.1901-1505G>C
ENST00000438045.5:c.1105+32G>C	ENSP00000410438.1:n.1105+32G>C
ENST00000484913.5:n.2110+32G>C
ENST00000496420.5:n.1747+32G>C
NM_000466.2:c.2071+32G>C	NP_000457.1:n.2071+32G>C
NM_001282677.1:c.1901-1505G>C	NP_001269606.1:n.1901-1505G>C
NM_001282678.1:c.1447+32G>C	NP_001269607.1:n.1447+32G>C
XM_005250433.3:c.322+32G>C	XP_005250490.1:n.322+32G>C
XR_242246.3:n.2167+32G>C
XM_017012319.2:c.322+32G>C	XP_016867808.1:n.322+32G>C
XR_001744808.2:n.1098+32G>C
XR_242246.5:n.2118+32G>C
NM_000466.3:c.2071+32G>C MANE Select	NP_000457.1:n.2071+32G>C
NM_001282677.2:c.1901-1505G>C	NP_001269606.1:n.1901-1505G>C
NM_001282678.2:c.1447+32G>C	NP_001269607.1:n.1447+32G>C