Canonical Allele Identifier: CA1104468683

Gene: PEX1

Linked Data

• dbSNP Id: rs1792120960
• gnomAD v3: 7-92505039-A-G
• gnomAD v4: 7-92505039-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92505039A>G , CM000669.2:g.92505039A>G	GRCh38
NC_000007.13:g.92134353A>G , CM000669.1:g.92134353A>G	GRCh37
NC_000007.12:g.91972289A>G	NCBI36
NG_008341.1:g.28493T>C
NG_008341.2:g.28493T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-137T>C MANE Select	ENSP00000248633.4:n.1901-137T>C
ENST00000248633.8:c.1901-137T>C	ENSP00000248633.4:n.1901-137T>C
ENST00000422866.1:c.719-137T>C
ENST00000428214.5:c.1900+1209T>C	ENSP00000394413.1:n.1900+1209T>C
ENST00000438045.5:c.935-137T>C	ENSP00000410438.1:n.935-137T>C
ENST00000484913.5:n.1940-137T>C
ENST00000496420.5:n.1577-137T>C
NM_000466.2:c.1901-137T>C	NP_000457.1:n.1901-137T>C
NM_001282677.1:c.1900+1209T>C	NP_001269606.1:n.1900+1209T>C
NM_001282678.1:c.1277-137T>C	NP_001269607.1:n.1277-137T>C
XM_005250433.3:c.152-137T>C	XP_005250490.1:n.152-137T>C
XR_242246.3:n.1997-137T>C
XM_017012319.2:c.152-137T>C	XP_016867808.1:n.152-137T>C
XR_001744808.2:n.928-137T>C
XR_242246.5:n.1948-137T>C
NM_000466.3:c.1901-137T>C MANE Select	NP_000457.1:n.1901-137T>C
NM_001282677.2:c.1900+1209T>C	NP_001269606.1:n.1900+1209T>C
NM_001282678.2:c.1277-137T>C	NP_001269607.1:n.1277-137T>C