Canonical Allele Identifier: CA452231785

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219307T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898169T>G , CM000668.2:g.136898169T>G	GRCh38
NC_000006.11:g.137219307T>G , CM000668.1:g.137219307T>G	GRCh37
NC_000006.10:g.137261000T>G	NCBI36
NG_008462.1:g.80590T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.831T>G MANE Select	ENSP00000315680.3:p.Ser277=
ENST00000541292.6:c.*96T>G	ENSP00000441004.1:n.*96T>G
ENST00000678002.1:c.519T>G
ENST00000678557.1:c.717T>G	ENSP00000502962.1:p.Ser239=
ENST00000679286.1:c.711T>G	ENSP00000503168.1:p.Ser237=
ENST00000318471.4:c.831T>G	ENSP00000315680.3:p.Ser277=
NM_000288.3:c.831T>G	NP_000279.1:p.Ser277=
XM_005267019.3:c.717T>G	XP_005267076.1:p.Ser239=
XM_006715502.1:c.537T>G	XP_006715565.1:p.Ser179=
XM_011535900.1:c.554T>G	XP_011534202.1:p.Leu185Arg
XM_005267019.4:c.717T>G	XP_005267076.1:p.Ser239=
XM_006715502.2:c.537T>G	XP_006715565.1:p.Ser179=
XM_017010934.2:c.554T>G	XP_016866423.1:p.Leu185Arg
NM_000288.4:c.831T>G MANE Select	NP_000279.1:p.Ser277=