Canonical Allele Identifier: CA365766582

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219303A>T (hg19) ; chr6:g.136898165A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898165A>T , CM000668.2:g.136898165A>T	GRCh38
NC_000006.11:g.137219303A>T , CM000668.1:g.137219303A>T	GRCh37
NC_000006.10:g.137260996A>T	NCBI36
NG_008462.1:g.80586A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.827A>T MANE Select	ENSP00000315680.3:p.Asp276Val
ENST00000541292.6:c.*92A>T	ENSP00000441004.1:n.*92A>T
ENST00000678002.1:c.515A>T
ENST00000678557.1:c.713A>T	ENSP00000502962.1:p.Asp238Val
ENST00000679286.1:c.707A>T	ENSP00000503168.1:p.Asp236Val
ENST00000318471.4:c.827A>T	ENSP00000315680.3:p.Asp276Val
NM_000288.3:c.827A>T	NP_000279.1:p.Asp276Val
XM_005267019.3:c.713A>T	XP_005267076.1:p.Asp238Val
XM_006715502.1:c.533A>T	XP_006715565.1:p.Asp178Val
XM_011535900.1:c.550A>T	XP_011534202.1:p.Thr184Ser
XM_005267019.4:c.713A>T	XP_005267076.1:p.Asp238Val
XM_006715502.2:c.533A>T	XP_006715565.1:p.Asp178Val
XM_017010934.2:c.550A>T	XP_016866423.1:p.Thr184Ser
NM_000288.4:c.827A>T MANE Select	NP_000279.1:p.Asp276Val