Canonical Allele Identifier: CA365855938

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1028672
• ClinVar RCV Id: RCV001329779
• dbSNP Id: rs1391235393
• gnomAD v2: 6-137147558-C-G
• gnomAD v3: 6-136826420-C-G
• gnomAD v4: 6-136826420-C-G
• MyVariant Identifiers: chr6:g.137147558C>G (hg19) ; chr6:g.136826420C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826420C>G , CM000668.2:g.136826420C>G	GRCh38
NC_000006.11:g.137147558C>G , CM000668.1:g.137147558C>G	GRCh37
NC_000006.10:g.137189251C>G	NCBI36
NG_008462.1:g.8841C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.290C>G MANE Select	ENSP00000315680.3:p.Thr97Ser
ENST00000541292.6:c.290C>G	ENSP00000441004.1:p.Thr97Ser
ENST00000678002.1:c.165C>G
ENST00000678557.1:c.176C>G	ENSP00000502962.1:p.Thr59Ser
ENST00000678593.1:c.295C>G	ENSP00000503841.1:n.295C>G
ENST00000679286.1:c.170C>G	ENSP00000503168.1:p.Thr57Ser
ENST00000318471.4:c.290C>G	ENSP00000315680.3:p.Thr97Ser
ENST00000367756.8:c.290C>G	ENSP00000356730.4:p.Thr97Ser
ENST00000541292.5:c.290C>G	ENSP00000441004.1:p.Thr97Ser
NM_000288.3:c.290C>G	NP_000279.1:p.Thr97Ser
XM_005267019.3:c.176C>G	XP_005267076.1:p.Thr59Ser
XM_006715502.1:c.290C>G	XP_006715565.1:p.Thr97Ser
XM_011535900.1:c.290C>G	XP_011534202.1:p.Thr97Ser
XM_005267019.4:c.176C>G	XP_005267076.1:p.Thr59Ser
XM_006715502.2:c.290C>G	XP_006715565.1:p.Thr97Ser
XM_017010934.2:c.290C>G	XP_016866423.1:p.Thr97Ser
NM_000288.4:c.290C>G MANE Select	NP_000279.1:p.Thr97Ser