Canonical Allele Identifier: CA365764410

Gene: PEX7

Linked Data

• ClinVar Variation Id: 992061
• ClinVar RCV Id: RCV001280377
• dbSNP Id: rs1775195476
• gnomAD v4: 6-136872210-C-T
• COSMIC: COSM6405383
• MyVariant Identifiers: chr6:g.137193348C>T (hg19) ; chr6:g.136872210C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872210C>T , CM000668.2:g.136872210C>T	GRCh38
NC_000006.11:g.137193348C>T , CM000668.1:g.137193348C>T	GRCh37
NC_000006.10:g.137235041C>T	NCBI36
NG_008462.1:g.54631C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.760C>T MANE Select	ENSP00000315680.3:p.His254Tyr
ENST00000541292.6:c.*25C>T	ENSP00000441004.1:n.*25C>T
ENST00000678002.1:c.448C>T
ENST00000678557.1:c.646C>T	ENSP00000502962.1:p.His216Tyr
ENST00000678593.1:c.765C>T	ENSP00000503841.1:n.765C>T
ENST00000679286.1:c.640C>T	ENSP00000503168.1:p.His214Tyr
ENST00000318471.4:c.760C>T	ENSP00000315680.3:p.His254Tyr
NM_000288.3:c.760C>T	NP_000279.1:p.His254Tyr
XM_005267019.3:c.646C>T	XP_005267076.1:p.His216Tyr
XM_006715502.1:c.466C>T	XP_006715565.1:p.His156Tyr
XM_011535900.1:c.527-25932C>T	XP_011534202.1:n.527-25932C>T
XM_005267019.4:c.646C>T	XP_005267076.1:p.His216Tyr
XM_006715502.2:c.466C>T	XP_006715565.1:p.His156Tyr
XM_017010934.2:c.527-25932C>T	XP_016866423.1:n.527-25932C>T
NM_000288.4:c.760C>T MANE Select	NP_000279.1:p.His254Tyr