Canonical Allele Identifier: CA4017545
Gene: PEX7 HGNC NCBI

Linked Data

ClinVar Variation Id: 370682
ClinVar RCV Id: RCV000409536 RCV001387967 RCV001828373 RCV002278634 RCV002502423
dbSNP Id: rs763514968
ExAC: 6:137147545 C / T
MyVariant Identifiers: chr6:g.137147545C>T (hg19) chr6:g.136826407C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136826407C>T , CM000668.2:g.136826407C>T GRCh38
NC_000006.11:g.137147545C>T , CM000668.1:g.137147545C>T GRCh37
NC_000006.10:g.137189238C>T NCBI36
NG_008462.1:g.8828C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.277C>T MANE Select ENSP00000315680.3:p.Gln93Ter
ENST00000541292.6:c.277C>T ENSP00000441004.1:p.Gln93Ter
ENST00000678002.1:c.152C>T
ENST00000678557.1:c.163C>T ENSP00000502962.1:p.Gln55Ter
ENST00000678593.1:c.282C>T ENSP00000503841.1:n.282C>T
ENST00000679286.1:c.157C>T ENSP00000503168.1:p.Gln53Ter
ENST00000318471.4:c.277C>T ENSP00000315680.3:p.Gln93Ter
ENST00000367756.8:c.277C>T ENSP00000356730.4:p.Gln93Ter
ENST00000541292.5:c.277C>T ENSP00000441004.1:p.Gln93Ter
NM_000288.3:c.277C>T NP_000279.1:p.Gln93Ter
XM_005267019.3:c.163C>T XP_005267076.1:p.Gln55Ter
XM_006715502.1:c.277C>T XP_006715565.1:p.Gln93Ter
XM_011535900.1:c.277C>T XP_011534202.1:p.Gln93Ter
XM_005267019.4:c.163C>T XP_005267076.1:p.Gln55Ter
XM_006715502.2:c.277C>T XP_006715565.1:p.Gln93Ter
XM_017010934.2:c.277C>T XP_016866423.1:p.Gln93Ter
NM_000288.4:c.277C>T MANE Select NP_000279.1:p.Gln93Ter
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