Canonical Allele Identifier: CA365766558

Gene: PEX7

Linked Data

• ClinVar Variation Id: 2829116
• ClinVar RCV Id: RCV003651128
• dbSNP Id: rs1306724935
• gnomAD v2: 6-137219294-C-G
• gnomAD v4: 6-136898156-C-G
• MyVariant Identifiers: chr6:g.137219294C>G (hg19) ; chr6:g.136898156C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898156C>G , CM000668.2:g.136898156C>G	GRCh38
NC_000006.11:g.137219294C>G , CM000668.1:g.137219294C>G	GRCh37
NC_000006.10:g.137260987C>G	NCBI36
NG_008462.1:g.80577C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.818C>G MANE Select	ENSP00000315680.3:p.Ser273Ter
ENST00000541292.6:c.*83C>G	ENSP00000441004.1:n.*83C>G
ENST00000678002.1:c.506C>G
ENST00000678557.1:c.704C>G	ENSP00000502962.1:p.Ser235Ter
ENST00000679286.1:c.698C>G	ENSP00000503168.1:p.Ser233Ter
ENST00000318471.4:c.818C>G	ENSP00000315680.3:p.Ser273Ter
NM_000288.3:c.818C>G	NP_000279.1:p.Ser273Ter
XM_005267019.3:c.704C>G	XP_005267076.1:p.Ser235Ter
XM_006715502.1:c.524C>G	XP_006715565.1:p.Ser175Ter
XM_011535900.1:c.541C>G	XP_011534202.1:p.Gln181Glu
XM_005267019.4:c.704C>G	XP_005267076.1:p.Ser235Ter
XM_006715502.2:c.524C>G	XP_006715565.1:p.Ser175Ter
XM_017010934.2:c.541C>G	XP_016866423.1:p.Gln181Glu
NM_000288.4:c.818C>G MANE Select	NP_000279.1:p.Ser273Ter