Canonical Allele Identifier: CA365762906

Gene: PEX7

Linked Data

• gnomAD v4: 6-136866660-C-T
• MyVariant Identifiers: chr6:g.137187798C>T (hg19) ; chr6:g.136866660C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866660C>T , CM000668.2:g.136866660C>T	GRCh38
NC_000006.11:g.137187798C>T , CM000668.1:g.137187798C>T	GRCh37
NC_000006.10:g.137229491C>T	NCBI36
NG_008462.1:g.49081C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.560C>T MANE Select	ENSP00000315680.3:p.Ala187Val
ENST00000541292.6:c.560C>T	ENSP00000441004.1:p.Ala187Val
ENST00000678002.1:c.248C>T
ENST00000678557.1:c.446C>T	ENSP00000502962.1:p.Ala149Val
ENST00000678593.1:c.565C>T	ENSP00000503841.1:n.565C>T
ENST00000679286.1:c.440C>T	ENSP00000503168.1:p.Ala147Val
ENST00000318471.4:c.560C>T	ENSP00000315680.3:p.Ala187Val
ENST00000541292.5:c.560C>T	ENSP00000441004.1:p.Ala187Val
NM_000288.3:c.560C>T	NP_000279.1:p.Ala187Val
XM_005267019.3:c.446C>T	XP_005267076.1:p.Ala149Val
XM_006715502.1:c.340-3230C>T	XP_006715565.1:n.340-3230C>T
XM_011535900.1:c.526+20479C>T	XP_011534202.1:n.526+20479C>T
XM_005267019.4:c.446C>T	XP_005267076.1:p.Ala149Val
XM_006715502.2:c.340-3230C>T	XP_006715565.1:n.340-3230C>T
XM_017010934.2:c.526+20479C>T	XP_016866423.1:n.526+20479C>T
NM_000288.4:c.560C>T MANE Select	NP_000279.1:p.Ala187Val