Canonical Allele Identifier: CA148640678

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1117788
• ClinVar RCV Id: RCV001446693
• dbSNP Id: rs935581914
• gnomAD v2: 6-137143866-C-G
• gnomAD v4: 6-136822728-C-G
• MyVariant Identifiers: chr6:g.137143866C>G (hg19) ; chr6:g.136822728C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822728C>G , CM000668.2:g.136822728C>G	GRCh38
NC_000006.11:g.137143866C>G , CM000668.1:g.137143866C>G	GRCh37
NC_000006.10:g.137185559C>G	NCBI36
NG_008462.1:g.5149C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.63C>G MANE Select	ENSP00000315680.3:p.Ala21=
ENST00000541292.6:c.63C>G	ENSP00000441004.1:p.Ala21=
ENST00000678593.1:c.63C>G	ENSP00000503841.1:p.Ala21=
ENST00000318471.4:c.63C>G	ENSP00000315680.3:p.Ala21=
ENST00000367756.8:c.63C>G	ENSP00000356730.4:p.Ala21=
ENST00000541292.5:c.63C>G	ENSP00000441004.1:p.Ala21=
NM_000288.3:c.63C>G	NP_000279.1:p.Ala21=
XM_006715502.1:c.63C>G	XP_006715565.1:p.Ala21=
XM_011535900.1:c.63C>G	XP_011534202.1:p.Ala21=
XM_006715502.2:c.63C>G	XP_006715565.1:p.Ala21=
XM_017010934.2:c.63C>G	XP_016866423.1:p.Ala21=
NM_000288.4:c.63C>G MANE Select	NP_000279.1:p.Ala21=