Canonical Allele Identifier: CA4341165

Gene: PEX1

Linked Data

• dbSNP Id: rs142838522
• ExAC: 7:92131349 C / A
• gnomAD v2: 7-92131349-C-A
• gnomAD v4: 7-92502035-C-A
• MyVariant Identifiers: chr7:g.92131349C>A (hg19) ; chr7:g.92502035C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502035C>A , CM000669.2:g.92502035C>A	GRCh38
NC_000007.13:g.92131349C>A , CM000669.1:g.92131349C>A	GRCh37
NC_000007.12:g.91969285C>A	NCBI36
NG_008341.1:g.31497G>T
NG_008341.2:g.31497G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2271G>T MANE Select	ENSP00000248633.4:p.Leu757Phe
ENST00000248633.8:c.2271G>T	ENSP00000248633.4:p.Leu757Phe
ENST00000428214.5:c.2100G>T	ENSP00000394413.1:p.Leu700Phe
ENST00000438045.5:c.1305G>T	ENSP00000410438.1:p.Leu435Phe
ENST00000484913.5:n.2310G>T
ENST00000496092.1:n.69G>T
ENST00000496420.5:n.1947G>T
NM_000466.2:c.2271G>T	NP_000457.1:p.Leu757Phe
NM_001282677.1:c.2100G>T	NP_001269606.1:p.Leu700Phe
NM_001282678.1:c.1647G>T	NP_001269607.1:p.Leu549Phe
XM_005250433.3:c.522G>T	XP_005250490.1:p.Leu174Phe
XR_242246.3:n.2367G>T
XM_017012319.2:c.522G>T	XP_016867808.1:p.Leu174Phe
XR_001744808.2:n.1298G>T
XR_242246.5:n.2318G>T
NM_000466.3:c.2271G>T MANE Select	NP_000457.1:p.Leu757Phe
NM_001282677.2:c.2100G>T	NP_001269606.1:p.Leu700Phe
NM_001282678.2:c.1647G>T	NP_001269607.1:p.Leu549Phe