Canonical Allele Identifier: CA365762830

Gene: PEX7

Linked Data

• gnomAD v4: 6-136866645-T-G
• MyVariant Identifiers: chr6:g.137187783T>G (hg19) ; chr6:g.136866645T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866645T>G , CM000668.2:g.136866645T>G	GRCh38
NC_000006.11:g.137187783T>G , CM000668.1:g.137187783T>G	GRCh37
NC_000006.10:g.137229476T>G	NCBI36
NG_008462.1:g.49066T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.545T>G MANE Select	ENSP00000315680.3:p.Ile182Arg
ENST00000541292.6:c.545T>G	ENSP00000441004.1:p.Ile182Arg
ENST00000678002.1:c.233T>G
ENST00000678557.1:c.431T>G	ENSP00000502962.1:p.Ile144Arg
ENST00000678593.1:c.550T>G	ENSP00000503841.1:n.550T>G
ENST00000679286.1:c.425T>G	ENSP00000503168.1:p.Ile142Arg
ENST00000318471.4:c.545T>G	ENSP00000315680.3:p.Ile182Arg
ENST00000541292.5:c.545T>G	ENSP00000441004.1:p.Ile182Arg
NM_000288.3:c.545T>G	NP_000279.1:p.Ile182Arg
XM_005267019.3:c.431T>G	XP_005267076.1:p.Ile144Arg
XM_006715502.1:c.340-3245T>G	XP_006715565.1:n.340-3245T>G
XM_011535900.1:c.526+20464T>G	XP_011534202.1:n.526+20464T>G
XM_005267019.4:c.431T>G	XP_005267076.1:p.Ile144Arg
XM_006715502.2:c.340-3245T>G	XP_006715565.1:n.340-3245T>G
XM_017010934.2:c.526+20464T>G	XP_016866423.1:n.526+20464T>G
NM_000288.4:c.545T>G MANE Select	NP_000279.1:p.Ile182Arg