Canonical Allele Identifier: CA365855927

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1376144
• ClinVar RCV Id: RCV001911940
• dbSNP Id: rs1412257014
• gnomAD v2: 6-137147554-G-A
• gnomAD v4: 6-136826416-G-A
• MyVariant Identifiers: chr6:g.137147554G>A (hg19) ; chr6:g.136826416G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826416G>A , CM000668.2:g.136826416G>A	GRCh38
NC_000006.11:g.137147554G>A , CM000668.1:g.137147554G>A	GRCh37
NC_000006.10:g.137189247G>A	NCBI36
NG_008462.1:g.8837G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.286G>A MANE Select	ENSP00000315680.3:p.Asp96Asn
ENST00000541292.6:c.286G>A	ENSP00000441004.1:p.Asp96Asn
ENST00000678002.1:c.161G>A
ENST00000678557.1:c.172G>A	ENSP00000502962.1:p.Asp58Asn
ENST00000678593.1:c.291G>A	ENSP00000503841.1:n.291G>A
ENST00000679286.1:c.166G>A	ENSP00000503168.1:p.Asp56Asn
ENST00000318471.4:c.286G>A	ENSP00000315680.3:p.Asp96Asn
ENST00000367756.8:c.286G>A	ENSP00000356730.4:p.Asp96Asn
ENST00000541292.5:c.286G>A	ENSP00000441004.1:p.Asp96Asn
NM_000288.3:c.286G>A	NP_000279.1:p.Asp96Asn
XM_005267019.3:c.172G>A	XP_005267076.1:p.Asp58Asn
XM_006715502.1:c.286G>A	XP_006715565.1:p.Asp96Asn
XM_011535900.1:c.286G>A	XP_011534202.1:p.Asp96Asn
XM_005267019.4:c.172G>A	XP_005267076.1:p.Asp58Asn
XM_006715502.2:c.286G>A	XP_006715565.1:p.Asp96Asn
XM_017010934.2:c.286G>A	XP_016866423.1:p.Asp96Asn
NM_000288.4:c.286G>A MANE Select	NP_000279.1:p.Asp96Asn