Canonical Allele Identifier: CA16041019

Gene: PEX7

Linked Data

• ClinVar Variation Id: 370873
• ClinVar RCV Id: RCV000409011 ; RCV002523862
• dbSNP Id: rs778862698
• gnomAD v4: 6-136872196-A-G
• MyVariant Identifiers: chr6:g.137193334A>G (hg19) ; chr6:g.136872196A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872196A>G , CM000668.2:g.136872196A>G	GRCh38
NC_000006.11:g.137193334A>G , CM000668.1:g.137193334A>G	GRCh37
NC_000006.10:g.137235027A>G	NCBI36
NG_008462.1:g.54617A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.748-2A>G MANE Select	ENSP00000315680.3:n.748-2A>G
ENST00000541292.6:c.*13-2A>G	ENSP00000441004.1:n.*13-2A>G
ENST00000678002.1:c.436-2A>G
ENST00000678557.1:c.634-2A>G	ENSP00000502962.1:n.634-2A>G
ENST00000678593.1:c.753-2A>G	ENSP00000503841.1:n.753-2A>G
ENST00000679286.1:c.628-2A>G	ENSP00000503168.1:n.628-2A>G
ENST00000318471.4:c.748-2A>G	ENSP00000315680.3:n.748-2A>G
NM_000288.3:c.748-2A>G	NP_000279.1:n.748-2A>G
XM_005267019.3:c.634-2A>G	XP_005267076.1:n.634-2A>G
XM_006715502.1:c.454-2A>G	XP_006715565.1:n.454-2A>G
XM_011535900.1:c.527-25946A>G	XP_011534202.1:n.527-25946A>G
XM_005267019.4:c.634-2A>G	XP_005267076.1:n.634-2A>G
XM_006715502.2:c.454-2A>G	XP_006715565.1:n.454-2A>G
XM_017010934.2:c.527-25946A>G	XP_016866423.1:n.527-25946A>G
NM_000288.4:c.748-2A>G MANE Select	NP_000279.1:n.748-2A>G