Canonical Allele Identifier: CA576706621

Gene: PEX1

Linked Data

• dbSNP Id: rs1303268278
• gnomAD v2: 7-92146508-A-G
• gnomAD v3: 7-92517194-A-G
• gnomAD v4: 7-92517194-A-G
• MyVariant Identifiers: chr7:g.92146508A>G (hg19) ; chr7:g.92517194A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517194A>G , CM000669.2:g.92517194A>G	GRCh38
NC_000007.13:g.92146508A>G , CM000669.1:g.92146508A>G	GRCh37
NC_000007.12:g.91984444A>G	NCBI36
NG_008341.1:g.16338T>C
NG_008341.2:g.16338T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1239+82T>C MANE Select	ENSP00000248633.4:n.1239+82T>C
ENST00000248633.8:c.1239+82T>C	ENSP00000248633.4:n.1239+82T>C
ENST00000422866.1:c.140+82T>C
ENST00000428214.5:c.1239+82T>C	ENSP00000394413.1:n.1239+82T>C
ENST00000438045.5:c.274-3227T>C	ENSP00000410438.1:n.274-3227T>C
ENST00000484913.5:n.1278+82T>C
NM_000466.2:c.1239+82T>C	NP_000457.1:n.1239+82T>C
NM_001282677.1:c.1239+82T>C	NP_001269606.1:n.1239+82T>C
NM_001282678.1:c.615+82T>C	NP_001269607.1:n.615+82T>C
XR_242246.3:n.1335+82T>C
XM_017012319.2:c.-428+82T>C	XP_016867808.1:n.-428+82T>C
XR_001744808.2:n.349+82T>C
XR_242246.5:n.1286+82T>C
NM_000466.3:c.1239+82T>C MANE Select	NP_000457.1:n.1239+82T>C
NM_001282677.2:c.1239+82T>C	NP_001269606.1:n.1239+82T>C
NM_001282678.2:c.615+82T>C	NP_001269607.1:n.615+82T>C