Canonical Allele Identifier: CA368181270

Gene: PEX1

Linked Data

• dbSNP Id: rs1442301270
• gnomAD v2: 7-92132383-C-T
• gnomAD v4: 7-92503069-C-T
• MyVariant Identifiers: chr7:g.92132383C>T (hg19) ; chr7:g.92503069C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503069C>T , CM000669.2:g.92503069C>T	GRCh38
NC_000007.13:g.92132383C>T , CM000669.1:g.92132383C>T	GRCh37
NC_000007.12:g.91970319C>T	NCBI36
NG_008341.1:g.30463G>A
NG_008341.2:g.30463G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2198G>A MANE Select	ENSP00000248633.4:p.Cys733Tyr
ENST00000248633.8:c.2198G>A	ENSP00000248633.4:p.Cys733Tyr
ENST00000428214.5:c.2027G>A	ENSP00000394413.1:p.Cys676Tyr
ENST00000438045.5:c.1232G>A	ENSP00000410438.1:p.Cys411Tyr
ENST00000484913.5:n.2237G>A
ENST00000496420.5:n.1874G>A
NM_000466.2:c.2198G>A	NP_000457.1:p.Cys733Tyr
NM_001282677.1:c.2027G>A	NP_001269606.1:p.Cys676Tyr
NM_001282678.1:c.1574G>A	NP_001269607.1:p.Cys525Tyr
XM_005250433.3:c.449G>A	XP_005250490.1:p.Cys150Tyr
XR_242246.3:n.2294G>A
XM_017012319.2:c.449G>A	XP_016867808.1:p.Cys150Tyr
XR_001744808.2:n.1225G>A
XR_242246.5:n.2245G>A
NM_000466.3:c.2198G>A MANE Select	NP_000457.1:p.Cys733Tyr
NM_001282677.2:c.2027G>A	NP_001269606.1:p.Cys676Tyr
NM_001282678.2:c.1574G>A	NP_001269607.1:p.Cys525Tyr