Canonical Allele Identifier: CA4017706

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1111685
• ClinVar RCV Id: RCV001438356
• dbSNP Id: rs201562684
• ExAC: 6:137191135 G / A
• gnomAD v2: 6-137191135-G-A
• gnomAD v3: 6-136869997-G-A
• gnomAD v4: 6-136869997-G-A
• MyVariant Identifiers: chr6:g.137191135G>A (hg19) ; chr6:g.136869997G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136869997G>A , CM000668.2:g.136869997G>A	GRCh38
NC_000006.11:g.137191135G>A , CM000668.1:g.137191135G>A	GRCh37
NC_000006.10:g.137232828G>A	NCBI36
NG_008462.1:g.52418G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.741G>A MANE Select	ENSP00000315680.3:p.Arg247=
ENST00000541292.6:c.741G>A	ENSP00000441004.1:p.Arg247=
ENST00000678002.1:c.429G>A
ENST00000678557.1:c.627G>A	ENSP00000502962.1:p.Arg209=
ENST00000678593.1:c.746G>A	ENSP00000503841.1:n.746G>A
ENST00000679286.1:c.621G>A	ENSP00000503168.1:p.Arg207=
ENST00000318471.4:c.741G>A	ENSP00000315680.3:p.Arg247=
ENST00000541292.5:c.741G>A	ENSP00000441004.1:p.Arg247=
NM_000288.3:c.741G>A	NP_000279.1:p.Arg247=
XM_005267019.3:c.627G>A	XP_005267076.1:p.Arg209=
XM_006715502.1:c.447G>A	XP_006715565.1:p.Arg149=
XM_011535900.1:c.526+23816G>A	XP_011534202.1:n.526+23816G>A
XM_005267019.4:c.627G>A	XP_005267076.1:p.Arg209=
XM_006715502.2:c.447G>A	XP_006715565.1:p.Arg149=
XM_017010934.2:c.526+23816G>A	XP_016866423.1:n.526+23816G>A
NM_000288.4:c.741G>A MANE Select	NP_000279.1:p.Arg247=