Canonical Allele Identifier: CA4017758

Gene: PEX7

Linked Data

• ClinVar Variation Id: 551503
• ClinVar RCV Id: RCV000666583 ; RCV002530690
• dbSNP Id: rs62653610
• ExAC: 6:137193373 C / T
• gnomAD v2: 6-137193373-C-T
• gnomAD v3: 6-136872235-C-T
• gnomAD v4: 6-136872235-C-T
• MyVariant Identifiers: chr6:g.137193373C>T (hg19) ; chr6:g.136872235C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.785C>T MANE Select	ENSP00000315680.3:p.Ser262Leu
ENST00000541292.6:c.*50C>T	ENSP00000441004.1:n.*50C>T
ENST00000678002.1:c.473C>T
ENST00000678557.1:c.671C>T	ENSP00000502962.1:p.Ser224Leu
ENST00000678593.1:c.790C>T	ENSP00000503841.1:n.790C>T
ENST00000679286.1:c.665C>T	ENSP00000503168.1:p.Ser222Leu
ENST00000318471.4:c.785C>T	ENSP00000315680.3:p.Ser262Leu
NM_000288.3:c.785C>T	NP_000279.1:p.Ser262Leu
XM_005267019.3:c.671C>T	XP_005267076.1:p.Ser224Leu
XM_006715502.1:c.491C>T	XP_006715565.1:p.Ser164Leu
XM_011535900.1:c.527-25907C>T	XP_011534202.1:n.527-25907C>T
XM_005267019.4:c.671C>T	XP_005267076.1:p.Ser224Leu
XM_006715502.2:c.491C>T	XP_006715565.1:p.Ser164Leu
XM_017010934.2:c.527-25907C>T	XP_016866423.1:n.527-25907C>T
NM_000288.4:c.785C>T MANE Select	NP_000279.1:p.Ser262Leu