Canonical Allele Identifier: CA365766679

Gene: PEX7

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.853C>G MANE Select	ENSP00000315680.3:p.His285Asp
ENST00000541292.6:c.*118C>G	ENSP00000441004.1:n.*118C>G
ENST00000678002.1:c.541C>G
ENST00000678557.1:c.739C>G	ENSP00000502962.1:p.His247Asp
ENST00000679286.1:c.733C>G	ENSP00000503168.1:p.His245Asp
ENST00000318471.4:c.853C>G	ENSP00000315680.3:p.His285Asp
NM_000288.3:c.853C>G	NP_000279.1:p.His285Asp
XM_005267019.3:c.739C>G	XP_005267076.1:p.His247Asp
XM_006715502.1:c.559C>G	XP_006715565.1:p.His187Asp
XM_011535900.1:c.576C>G	XP_011534202.1:p.Ile192Met
XM_005267019.4:c.739C>G	XP_005267076.1:p.His247Asp
XM_006715502.2:c.559C>G	XP_006715565.1:p.His187Asp
XM_017010934.2:c.576C>G	XP_016866423.1:p.Ile192Met
NM_000288.4:c.853C>G MANE Select	NP_000279.1:p.His285Asp