Canonical Allele Identifier: CA365762860

Gene: PEX7

Linked Data

• dbSNP Id: rs1775077607
• MyVariant Identifiers: chr6:g.137187789A>G (hg19) ; chr6:g.136866651A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866651A>G , CM000668.2:g.136866651A>G	GRCh38
NC_000006.11:g.137187789A>G , CM000668.1:g.137187789A>G	GRCh37
NC_000006.10:g.137229482A>G	NCBI36
NG_008462.1:g.49072A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.551A>G MANE Select	ENSP00000315680.3:p.Asp184Gly
ENST00000541292.6:c.551A>G	ENSP00000441004.1:p.Asp184Gly
ENST00000678002.1:c.239A>G
ENST00000678557.1:c.437A>G	ENSP00000502962.1:p.Asp146Gly
ENST00000678593.1:c.556A>G	ENSP00000503841.1:n.556A>G
ENST00000679286.1:c.431A>G	ENSP00000503168.1:p.Asp144Gly
ENST00000318471.4:c.551A>G	ENSP00000315680.3:p.Asp184Gly
ENST00000541292.5:c.551A>G	ENSP00000441004.1:p.Asp184Gly
NM_000288.3:c.551A>G	NP_000279.1:p.Asp184Gly
XM_005267019.3:c.437A>G	XP_005267076.1:p.Asp146Gly
XM_006715502.1:c.340-3239A>G	XP_006715565.1:n.340-3239A>G
XM_011535900.1:c.526+20470A>G	XP_011534202.1:n.526+20470A>G
XM_005267019.4:c.437A>G	XP_005267076.1:p.Asp146Gly
XM_006715502.2:c.340-3239A>G	XP_006715565.1:n.340-3239A>G
XM_017010934.2:c.526+20470A>G	XP_016866423.1:n.526+20470A>G
NM_000288.4:c.551A>G MANE Select	NP_000279.1:p.Asp184Gly