Canonical Allele Identifier: CA365766676

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219329C>A (hg19) ; chr6:g.136898191C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898191C>A , CM000668.2:g.136898191C>A	GRCh38
NC_000006.11:g.137219329C>A , CM000668.1:g.137219329C>A	GRCh37
NC_000006.10:g.137261022C>A	NCBI36
NG_008462.1:g.80612C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.853C>A MANE Select	ENSP00000315680.3:p.His285Asn
ENST00000541292.6:c.*118C>A	ENSP00000441004.1:n.*118C>A
ENST00000678002.1:c.541C>A
ENST00000678557.1:c.739C>A	ENSP00000502962.1:p.His247Asn
ENST00000679286.1:c.733C>A	ENSP00000503168.1:p.His245Asn
ENST00000318471.4:c.853C>A	ENSP00000315680.3:p.His285Asn
NM_000288.3:c.853C>A	NP_000279.1:p.His285Asn
XM_005267019.3:c.739C>A	XP_005267076.1:p.His247Asn
XM_006715502.1:c.559C>A	XP_006715565.1:p.His187Asn
XM_011535900.1:c.576C>A	XP_011534202.1:p.Ile192=
XM_005267019.4:c.739C>A	XP_005267076.1:p.His247Asn
XM_006715502.2:c.559C>A	XP_006715565.1:p.His187Asn
XM_017010934.2:c.576C>A	XP_016866423.1:p.Ile192=
NM_000288.4:c.853C>A MANE Select	NP_000279.1:p.His285Asn