Canonical Allele Identifier: CA452231784

Gene: PEX7

Linked Data

• ClinVar Variation Id: 2903529
• ClinVar RCV Id: RCV003651510
• MyVariant Identifiers: chr6:g.137219304C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898166C>T , CM000668.2:g.136898166C>T	GRCh38
NC_000006.11:g.137219304C>T , CM000668.1:g.137219304C>T	GRCh37
NC_000006.10:g.137260997C>T	NCBI36
NG_008462.1:g.80587C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.828C>T MANE Select	ENSP00000315680.3:p.Asp276=
ENST00000541292.6:c.*93C>T	ENSP00000441004.1:n.*93C>T
ENST00000678002.1:c.516C>T
ENST00000678557.1:c.714C>T	ENSP00000502962.1:p.Asp238=
ENST00000679286.1:c.708C>T	ENSP00000503168.1:p.Asp236=
ENST00000318471.4:c.828C>T	ENSP00000315680.3:p.Asp276=
NM_000288.3:c.828C>T	NP_000279.1:p.Asp276=
XM_005267019.3:c.714C>T	XP_005267076.1:p.Asp238=
XM_006715502.1:c.534C>T	XP_006715565.1:p.Asp178=
XM_011535900.1:c.551C>T	XP_011534202.1:p.Thr184Ile
XM_005267019.4:c.714C>T	XP_005267076.1:p.Asp238=
XM_006715502.2:c.534C>T	XP_006715565.1:p.Asp178=
XM_017010934.2:c.551C>T	XP_016866423.1:p.Thr184Ile
NM_000288.4:c.828C>T MANE Select	NP_000279.1:p.Asp276=