Canonical Allele Identifier: CA161959282

Gene: PEX1

Linked Data

• dbSNP Id: rs577062174
• gnomAD v2: 7-92129426-A-G
• gnomAD v3: 7-92500112-A-G
• gnomAD v4: 7-92500112-A-G
• MyVariant Identifiers: chr7:g.92129426A>G (hg19) ; chr7:g.92500112A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92500112A>G , CM000669.2:g.92500112A>G	GRCh38
NC_000007.13:g.92129426A>G , CM000669.1:g.92129426A>G	GRCh37
NC_000007.12:g.91967362A>G	NCBI36
NG_008341.1:g.33420T>C
NG_008341.2:g.33420T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-274T>C MANE Select	ENSP00000248633.4:n.2584-274T>C
ENST00000248633.8:c.2584-274T>C	ENSP00000248633.4:n.2584-274T>C
ENST00000428214.5:c.2413-274T>C	ENSP00000394413.1:n.2413-274T>C
ENST00000438045.5:c.1618-274T>C	ENSP00000410438.1:n.1618-274T>C
ENST00000484913.5:n.2623-274T>C
ENST00000496420.5:n.2476-274T>C
NM_000466.2:c.2584-274T>C	NP_000457.1:n.2584-274T>C
NM_001282677.1:c.2413-274T>C	NP_001269606.1:n.2413-274T>C
NM_001282678.1:c.1960-274T>C	NP_001269607.1:n.1960-274T>C
XM_005250433.3:c.835-274T>C	XP_005250490.1:n.835-274T>C
XR_242246.3:n.2680-274T>C
XM_017012319.2:c.835-274T>C	XP_016867808.1:n.835-274T>C
XR_001744808.2:n.1611-274T>C
XR_242246.5:n.2631-274T>C
NM_000466.3:c.2584-274T>C MANE Select	NP_000457.1:n.2584-274T>C
NM_001282677.2:c.2413-274T>C	NP_001269606.1:n.2413-274T>C
NM_001282678.2:c.1960-274T>C	NP_001269607.1:n.1960-274T>C