Canonical Allele Identifier: CA365766877

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219379G>T (hg19) ; chr6:g.136898241G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898241G>T , CM000668.2:g.136898241G>T	GRCh38
NC_000006.11:g.137219379G>T , CM000668.1:g.137219379G>T	GRCh37
NC_000006.10:g.137261072G>T	NCBI36
NG_008462.1:g.80662G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.903G>T MANE Select	ENSP00000315680.3:p.Gln301His
ENST00000541292.6:c.*168G>T	ENSP00000441004.1:n.*168G>T
ENST00000678002.1:c.591G>T
ENST00000678557.1:c.789G>T	ENSP00000502962.1:p.Gln263His
ENST00000679286.1:c.783G>T	ENSP00000503168.1:p.Gln261His
ENST00000318471.4:c.903G>T	ENSP00000315680.3:p.Gln301His
NM_000288.3:c.903G>T	NP_000279.1:p.Gln301His
XM_005267019.3:c.789G>T	XP_005267076.1:p.Gln263His
XM_006715502.1:c.609G>T	XP_006715565.1:p.Gln203His
XM_005267019.4:c.789G>T	XP_005267076.1:p.Gln263His
XM_006715502.2:c.609G>T	XP_006715565.1:p.Gln203His
XM_017010934.2:c.*26G>T	XP_016866423.1:n.*26G>T
NM_000288.4:c.903G>T MANE Select	NP_000279.1:p.Gln301His