Canonical Allele Identifier: CA4017788

Gene: PEX7

Linked Data

• ClinVar Variation Id: 2070603
• ClinVar RCV Id: RCV002959135
• dbSNP Id: rs779919482
• ExAC: 6:137219387 A / T
• gnomAD v2: 6-137219387-A-T
• gnomAD v3: 6-136898249-A-T
• gnomAD v4: 6-136898249-A-T
• MyVariant Identifiers: chr6:g.137219387A>T (hg19) ; chr6:g.136898249A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898249A>T , CM000668.2:g.136898249A>T	GRCh38
NC_000006.11:g.137219387A>T , CM000668.1:g.137219387A>T	GRCh37
NC_000006.10:g.137261080A>T	NCBI36
NG_008462.1:g.80670A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.903+8A>T MANE Select	ENSP00000315680.3:n.903+8A>T
ENST00000541292.6:c.*168+8A>T	ENSP00000441004.1:n.*168+8A>T
ENST00000678002.1:c.591+8A>T
ENST00000678557.1:c.789+8A>T	ENSP00000502962.1:n.789+8A>T
ENST00000679286.1:c.783+8A>T	ENSP00000503168.1:n.783+8A>T
ENST00000318471.4:c.903+8A>T	ENSP00000315680.3:n.903+8A>T
NM_000288.3:c.903+8A>T	NP_000279.1:n.903+8A>T
XM_005267019.3:c.789+8A>T	XP_005267076.1:n.789+8A>T
XM_006715502.1:c.609+8A>T	XP_006715565.1:n.609+8A>T
XM_005267019.4:c.789+8A>T	XP_005267076.1:n.789+8A>T
XM_006715502.2:c.609+8A>T	XP_006715565.1:n.609+8A>T
XM_017010934.2:c.*26+8A>T	XP_016866423.1:n.*26+8A>T
NM_000288.4:c.903+8A>T MANE Select	NP_000279.1:n.903+8A>T