Canonical Allele Identifier: CA4017744

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1165772
• ClinVar RCV Id: RCV001513186 ; RCV001595080
• dbSNP Id: rs200965122
• ExAC: 6:137193320 C / T
• gnomAD v2: 6-137193320-C-T
• gnomAD v3: 6-136872182-C-T
• gnomAD v4: 6-136872182-C-T
• COSMIC: COSN19624899 ; COSN19664101 ; COSN20278704
• MyVariant Identifiers: chr6:g.137193320C>T (hg19) ; chr6:g.137193320_137193321delinsTT (hg19) ; chr6:g.137193320_137193322delinsTTT (hg19) ; chr6:g.136872182C>T (hg38) ; chr6:g.136872182_136872183delinsTT (hg38) ; chr6:g.136872182_136872184delinsTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872182C>T , CM000668.2:g.136872182C>T	GRCh38
NC_000006.11:g.137193320C>T , CM000668.1:g.137193320C>T	GRCh37
NC_000006.10:g.137235013C>T	NCBI36
NG_008462.1:g.54603C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.748-16C>T MANE Select	ENSP00000315680.3:n.748-16C>T
ENST00000541292.6:c.*13-16C>T	ENSP00000441004.1:n.*13-16C>T
ENST00000678002.1:c.436-16C>T
ENST00000678557.1:c.634-16C>T	ENSP00000502962.1:n.634-16C>T
ENST00000678593.1:c.753-16C>T	ENSP00000503841.1:n.753-16C>T
ENST00000679286.1:c.628-16C>T	ENSP00000503168.1:n.628-16C>T
ENST00000318471.4:c.748-16C>T	ENSP00000315680.3:n.748-16C>T
NM_000288.3:c.748-16C>T	NP_000279.1:n.748-16C>T
XM_005267019.3:c.634-16C>T	XP_005267076.1:n.634-16C>T
XM_006715502.1:c.454-16C>T	XP_006715565.1:n.454-16C>T
XM_011535900.1:c.527-25960C>T	XP_011534202.1:n.527-25960C>T
XM_005267019.4:c.634-16C>T	XP_005267076.1:n.634-16C>T
XM_006715502.2:c.454-16C>T	XP_006715565.1:n.454-16C>T
XM_017010934.2:c.527-25960C>T	XP_016866423.1:n.527-25960C>T
NM_000288.4:c.748-16C>T MANE Select	NP_000279.1:n.748-16C>T