Canonical Allele Identifier: CA4341297

Gene: PEX1

Linked Data

• dbSNP Id: rs143167106
• ExAC: 7:92136286 T / G
• gnomAD v2: 7-92136286-T-G
• gnomAD v3: 7-92506972-T-G
• gnomAD v4: 7-92506972-T-G
• MyVariant Identifiers: chr7:g.92136286T>G (hg19) ; chr7:g.92506972T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506972T>G , CM000669.2:g.92506972T>G	GRCh38
NC_000007.13:g.92136286T>G , CM000669.1:g.92136286T>G	GRCh37
NC_000007.12:g.91974222T>G	NCBI36
NG_008341.1:g.26560A>C
NG_008341.2:g.26560A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1803+22A>C MANE Select	ENSP00000248633.4:n.1803+22A>C
ENST00000248633.8:c.1803+22A>C	ENSP00000248633.4:n.1803+22A>C
ENST00000422866.1:c.621+22A>C
ENST00000428214.5:c.1803+22A>C	ENSP00000394413.1:n.1803+22A>C
ENST00000438045.5:c.837+22A>C	ENSP00000410438.1:n.837+22A>C
ENST00000484913.5:n.1842+22A>C
ENST00000496420.5:n.852A>C
NM_000466.2:c.1803+22A>C	NP_000457.1:n.1803+22A>C
NM_001282677.1:c.1803+22A>C	NP_001269606.1:n.1803+22A>C
NM_001282678.1:c.1179+22A>C	NP_001269607.1:n.1179+22A>C
XM_005250433.3:c.54+22A>C	XP_005250490.1:n.54+22A>C
XR_242246.3:n.1899+22A>C
XM_017012319.2:c.54+22A>C	XP_016867808.1:n.54+22A>C
XR_001744808.2:n.830+22A>C
XR_242246.5:n.1850+22A>C
NM_000466.3:c.1803+22A>C MANE Select	NP_000457.1:n.1803+22A>C
NM_001282677.2:c.1803+22A>C	NP_001269606.1:n.1803+22A>C
NM_001282678.2:c.1179+22A>C	NP_001269607.1:n.1179+22A>C