Canonical Allele Identifier: CA365764458

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137193373C>A (hg19) ; chr6:g.136872235C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872235C>A , CM000668.2:g.136872235C>A	GRCh38
NC_000006.11:g.137193373C>A , CM000668.1:g.137193373C>A	GRCh37
NC_000006.10:g.137235066C>A	NCBI36
NG_008462.1:g.54656C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.785C>A MANE Select	ENSP00000315680.3:p.Ser262Ter
ENST00000541292.6:c.*50C>A	ENSP00000441004.1:n.*50C>A
ENST00000678002.1:c.473C>A
ENST00000678557.1:c.671C>A	ENSP00000502962.1:p.Ser224Ter
ENST00000678593.1:c.790C>A	ENSP00000503841.1:n.790C>A
ENST00000679286.1:c.665C>A	ENSP00000503168.1:p.Ser222Ter
ENST00000318471.4:c.785C>A	ENSP00000315680.3:p.Ser262Ter
NM_000288.3:c.785C>A	NP_000279.1:p.Ser262Ter
XM_005267019.3:c.671C>A	XP_005267076.1:p.Ser224Ter
XM_006715502.1:c.491C>A	XP_006715565.1:p.Ser164Ter
XM_011535900.1:c.527-25907C>A	XP_011534202.1:n.527-25907C>A
XM_005267019.4:c.671C>A	XP_005267076.1:p.Ser224Ter
XM_006715502.2:c.491C>A	XP_006715565.1:p.Ser164Ter
XM_017010934.2:c.527-25907C>A	XP_016866423.1:n.527-25907C>A
NM_000288.4:c.785C>A MANE Select	NP_000279.1:p.Ser262Ter