Canonical Allele Identifier: CA220977

Gene: PEX1

Linked Data

• ClinVar Variation Id: 7516
• ClinVar RCV Id: RCV000007946 ; RCV000022416 ; RCV000032927 ; RCV000078922 ; RCV000345695 ; RCV000661947 ; RCV000763596 ; RCV000791271 ; RCV001004322 ; RCV001074120 ; RCV001376560 ; RCV001266794 ; RCV001731280 ; RCV003398462
• dbSNP Id: rs61750420
• ExAC: 7:92130876 C / T
• gnomAD v2: 7-92130876-C-T
• gnomAD v3: 7-92501562-C-T
• gnomAD v4: 7-92501562-C-T
• MyVariant Identifiers: chr7:g.92130876C>T (hg19) ; chr7:g.92501562C>T (hg38)
• PubMed: PMID:9398847 ; PMID:9398848 ; PMID:10384394 ; PMID:11389485 ; PMID:12402331 ; PMID:15098231 ; PMID:16141001 ; PMID:17055079 ; PMID:21031596 ; PMID:21846392 ; PMID:21862673 ; PMID:22871920 ; PMID:23757202 ; PMID:23891399 ; PMID:26643206

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501562C>T , CM000669.2:g.92501562C>T	GRCh38
NC_000007.13:g.92130876C>T , CM000669.1:g.92130876C>T	GRCh37
NC_000007.12:g.91968812C>T	NCBI36
NG_008341.1:g.31970G>A
NG_008341.2:g.31970G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2528G>A MANE Select	ENSP00000248633.4:p.Gly843Asp
ENST00000248633.8:c.2528G>A	ENSP00000248633.4:p.Gly843Asp
ENST00000428214.5:c.2357G>A	ENSP00000394413.1:p.Gly786Asp
ENST00000438045.5:c.1562G>A	ENSP00000410438.1:p.Gly521Asp
ENST00000484913.5:n.2567G>A
ENST00000496420.5:n.2420G>A
NM_000466.2:c.2528G>A	NP_000457.1:p.Gly843Asp
NM_001282677.1:c.2357G>A	NP_001269606.1:p.Gly786Asp
NM_001282678.1:c.1904G>A	NP_001269607.1:p.Gly635Asp
XM_005250433.3:c.779G>A	XP_005250490.1:p.Gly260Asp
XR_242246.3:n.2624G>A
XM_017012319.2:c.779G>A	XP_016867808.1:p.Gly260Asp
XR_001744808.2:n.1555G>A
XR_242246.5:n.2575G>A
NM_000466.3:c.2528G>A MANE Select	NP_000457.1:p.Gly843Asp
NM_001282677.2:c.2357G>A	NP_001269606.1:p.Gly786Asp
NM_001282678.2:c.1904G>A	NP_001269607.1:p.Gly635Asp