Canonical Allele Identifier: CA1104488712

Gene: PEX1

Linked Data

• dbSNP Id: rs1791661183
• gnomAD v3: 7-92496536-T-C
• gnomAD v4: 7-92496536-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496536T>C , CM000669.2:g.92496536T>C	GRCh38
NC_000007.13:g.92125850T>C , CM000669.1:g.92125850T>C	GRCh37
NC_000007.12:g.91963786T>C	NCBI36
NG_008341.1:g.36996A>G
NG_008341.2:g.36996A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2783+177A>G MANE Select	ENSP00000248633.4:n.2783+177A>G
ENST00000248633.8:c.2783+177A>G	ENSP00000248633.4:n.2783+177A>G
ENST00000428214.5:c.2612+177A>G	ENSP00000394413.1:n.2612+177A>G
ENST00000438045.5:c.1817+177A>G	ENSP00000410438.1:n.1817+177A>G
ENST00000484913.5:n.2822+177A>G
ENST00000496420.5:n.2675+177A>G
NM_000466.2:c.2783+177A>G	NP_000457.1:n.2783+177A>G
NM_001282677.1:c.2612+177A>G	NP_001269606.1:n.2612+177A>G
NM_001282678.1:c.2159+177A>G	NP_001269607.1:n.2159+177A>G
XM_005250433.3:c.1034+177A>G	XP_005250490.1:n.1034+177A>G
XR_242246.3:n.2879+177A>G
XM_017012319.2:c.1034+177A>G	XP_016867808.1:n.1034+177A>G
XR_001744808.2:n.1810+177A>G
XR_242246.5:n.2830+177A>G
NM_000466.3:c.2783+177A>G MANE Select	NP_000457.1:n.2783+177A>G
NM_001282677.2:c.2612+177A>G	NP_001269606.1:n.2612+177A>G
NM_001282678.2:c.2159+177A>G	NP_001269607.1:n.2159+177A>G