Canonical Allele Identifier: CA16041012

Gene: PEX7

Linked Data

• ClinVar Variation Id: 371661
• ClinVar RCV Id: RCV000411360 ; RCV003475974
• dbSNP Id: rs62653604
• MyVariant Identifiers: chr6:g.137147602C>T (hg19) ; chr6:g.136826464C>T (hg38)
• PubMed: PMID:12325024

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826464C>T , CM000668.2:g.136826464C>T	GRCh38
NC_000006.11:g.137147602C>T , CM000668.1:g.137147602C>T	GRCh37
NC_000006.10:g.137189295C>T	NCBI36
NG_008462.1:g.8885C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.334C>T MANE Select	ENSP00000315680.3:p.Gln112Ter
ENST00000541292.6:c.334C>T	ENSP00000441004.1:p.Gln112Ter
ENST00000678002.1:c.209C>T
ENST00000678557.1:c.220C>T	ENSP00000502962.1:p.Gln74Ter
ENST00000678593.1:c.339C>T	ENSP00000503841.1:n.339C>T
ENST00000679286.1:c.214C>T	ENSP00000503168.1:p.Gln72Ter
ENST00000318471.4:c.334C>T	ENSP00000315680.3:p.Gln112Ter
ENST00000367756.8:c.334C>T	ENSP00000356730.4:p.Gln112Ter
ENST00000541292.5:c.334C>T	ENSP00000441004.1:p.Gln112Ter
NM_000288.3:c.334C>T	NP_000279.1:p.Gln112Ter
XM_005267019.3:c.220C>T	XP_005267076.1:p.Gln74Ter
XM_006715502.1:c.334C>T	XP_006715565.1:p.Gln112Ter
XM_011535900.1:c.334C>T	XP_011534202.1:p.Gln112Ter
XM_005267019.4:c.220C>T	XP_005267076.1:p.Gln74Ter
XM_006715502.2:c.334C>T	XP_006715565.1:p.Gln112Ter
XM_017010934.2:c.334C>T	XP_016866423.1:p.Gln112Ter
NM_000288.4:c.334C>T MANE Select	NP_000279.1:p.Gln112Ter