Canonical Allele Identifier: CA365766650

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219321T>G (hg19) ; chr6:g.136898183T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898183T>G , CM000668.2:g.136898183T>G	GRCh38
NC_000006.11:g.137219321T>G , CM000668.1:g.137219321T>G	GRCh37
NC_000006.10:g.137261014T>G	NCBI36
NG_008462.1:g.80604T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.845T>G MANE Select	ENSP00000315680.3:p.Val282Gly
ENST00000541292.6:c.*110T>G	ENSP00000441004.1:n.*110T>G
ENST00000678002.1:c.533T>G
ENST00000678557.1:c.731T>G	ENSP00000502962.1:p.Val244Gly
ENST00000679286.1:c.725T>G	ENSP00000503168.1:p.Val242Gly
ENST00000318471.4:c.845T>G	ENSP00000315680.3:p.Val282Gly
NM_000288.3:c.845T>G	NP_000279.1:p.Val282Gly
XM_005267019.3:c.731T>G	XP_005267076.1:p.Val244Gly
XM_006715502.1:c.551T>G	XP_006715565.1:p.Val184Gly
XM_011535900.1:c.568T>G	XP_011534202.1:p.Trp190Gly
XM_005267019.4:c.731T>G	XP_005267076.1:p.Val244Gly
XM_006715502.2:c.551T>G	XP_006715565.1:p.Val184Gly
XM_017010934.2:c.568T>G	XP_016866423.1:p.Trp190Gly
NM_000288.4:c.845T>G MANE Select	NP_000279.1:p.Val282Gly