Canonical Allele Identifier: CA16041013

Gene: PEX7

Linked Data

• ClinVar Variation Id: 371166
• ClinVar RCV Id: RCV000409658 ; RCV002275036
• dbSNP Id: rs1057517059
• gnomAD v4: 6-136826471-T-C
• MyVariant Identifiers: chr6:g.137147609T>C (hg19) ; chr6:g.136826471T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826471T>C , CM000668.2:g.136826471T>C	GRCh38
NC_000006.11:g.137147609T>C , CM000668.1:g.137147609T>C	GRCh37
NC_000006.10:g.137189302T>C	NCBI36
NG_008462.1:g.8892T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.339+2T>C MANE Select	ENSP00000315680.3:n.339+2T>C
ENST00000541292.6:c.339+2T>C	ENSP00000441004.1:n.339+2T>C
ENST00000678002.1:c.214+2T>C
ENST00000678557.1:c.225+2T>C	ENSP00000502962.1:n.225+2T>C
ENST00000678593.1:c.344+2T>C	ENSP00000503841.1:n.344+2T>C
ENST00000679286.1:c.219+2T>C	ENSP00000503168.1:n.219+2T>C
ENST00000318471.4:c.339+2T>C	ENSP00000315680.3:n.339+2T>C
ENST00000367756.8:c.339+2T>C	ENSP00000356730.4:n.339+2T>C
ENST00000541292.5:c.339+2T>C	ENSP00000441004.1:n.339+2T>C
NM_000288.3:c.339+2T>C	NP_000279.1:n.339+2T>C
XM_005267019.3:c.225+2T>C	XP_005267076.1:n.225+2T>C
XM_006715502.1:c.339+2T>C	XP_006715565.1:n.339+2T>C
XM_011535900.1:c.339+2T>C	XP_011534202.1:n.339+2T>C
XM_005267019.4:c.225+2T>C	XP_005267076.1:n.225+2T>C
XM_006715502.2:c.339+2T>C	XP_006715565.1:n.339+2T>C
XM_017010934.2:c.339+2T>C	XP_016866423.1:n.339+2T>C
NM_000288.4:c.339+2T>C MANE Select	NP_000279.1:n.339+2T>C