Canonical Allele Identifier: CA148218765

Gene: PEX7

Linked Data

• ClinVar Variation Id: 555002
• ClinVar RCV Id: RCV000670736
• dbSNP Id: rs374763007
• gnomAD v4: 6-136898239-C-T
• MyVariant Identifiers: chr6:g.137219377C>T (hg19) ; chr6:g.136898239C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898239C>T , CM000668.2:g.136898239C>T	GRCh38
NC_000006.11:g.137219377C>T , CM000668.1:g.137219377C>T	GRCh37
NC_000006.10:g.137261070C>T	NCBI36
NG_008462.1:g.80660C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.901C>T MANE Select	ENSP00000315680.3:p.Gln301Ter
ENST00000541292.6:c.*166C>T	ENSP00000441004.1:n.*166C>T
ENST00000678002.1:c.589C>T
ENST00000678557.1:c.787C>T	ENSP00000502962.1:p.Gln263Ter
ENST00000679286.1:c.781C>T	ENSP00000503168.1:p.Gln261Ter
ENST00000318471.4:c.901C>T	ENSP00000315680.3:p.Gln301Ter
NM_000288.3:c.901C>T	NP_000279.1:p.Gln301Ter
XM_005267019.3:c.787C>T	XP_005267076.1:p.Gln263Ter
XM_006715502.1:c.607C>T	XP_006715565.1:p.Gln203Ter
XM_005267019.4:c.787C>T	XP_005267076.1:p.Gln263Ter
XM_006715502.2:c.607C>T	XP_006715565.1:p.Gln203Ter
XM_017010934.2:c.*24C>T	XP_016866423.1:n.*24C>T
NM_000288.4:c.901C>T MANE Select	NP_000279.1:p.Gln301Ter