Canonical Allele Identifier: CA365856717

Gene: PEX7

Linked Data

• ClinVar Variation Id: 436286
• ClinVar RCV Id: RCV000500982
• dbSNP Id: rs1554331461
• MyVariant Identifiers: chr6:g.137166770G>A (hg19) ; chr6:g.136845632G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136845632G>A , CM000668.2:g.136845632G>A	GRCh38
NC_000006.11:g.137166770G>A , CM000668.1:g.137166770G>A	GRCh37
NC_000006.10:g.137208463G>A	NCBI36
NG_008462.1:g.28053G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.357G>A MANE Select	ENSP00000315680.3:p.Trp119Ter
ENST00000541292.6:c.357G>A	ENSP00000441004.1:p.Trp119Ter
ENST00000678002.1:c.214+19163G>A
ENST00000678557.1:c.243G>A	ENSP00000502962.1:p.Trp81Ter
ENST00000678593.1:c.362G>A	ENSP00000503841.1:n.362G>A
ENST00000679286.1:c.237G>A	ENSP00000503168.1:p.Trp79Ter
ENST00000318471.4:c.357G>A	ENSP00000315680.3:p.Trp119Ter
ENST00000541292.5:c.357G>A	ENSP00000441004.1:p.Trp119Ter
NM_000288.3:c.357G>A	NP_000279.1:p.Trp119Ter
XM_005267019.3:c.243G>A	XP_005267076.1:p.Trp81Ter
XM_006715502.1:c.339+19163G>A	XP_006715565.1:n.339+19163G>A
XM_011535900.1:c.357G>A	XP_011534202.1:p.Trp119Ter
XM_005267019.4:c.243G>A	XP_005267076.1:p.Trp81Ter
XM_006715502.2:c.339+19163G>A	XP_006715565.1:n.339+19163G>A
XM_017010934.2:c.357G>A	XP_016866423.1:p.Trp119Ter
NM_000288.4:c.357G>A MANE Select	NP_000279.1:p.Trp119Ter