Canonical Allele Identifier: CA148218739

Gene: PEX7

Linked Data

• ClinVar Variation Id: 597528
• ClinVar RCV Id: RCV000733682 ; RCV001085736 ; RCV004027069
• dbSNP Id: rs936175997
• gnomAD v2: 6-137219343-T-C
• gnomAD v3: 6-136898205-T-C
• gnomAD v4: 6-136898205-T-C
• MyVariant Identifiers: chr6:g.137219343T>C (hg19) ; chr6:g.136898205T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898205T>C , CM000668.2:g.136898205T>C	GRCh38
NC_000006.11:g.137219343T>C , CM000668.1:g.137219343T>C	GRCh37
NC_000006.10:g.137261036T>C	NCBI36
NG_008462.1:g.80626T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.867T>C MANE Select	ENSP00000315680.3:p.Thr289=
ENST00000541292.6:c.*132T>C	ENSP00000441004.1:n.*132T>C
ENST00000678002.1:c.555T>C
ENST00000678557.1:c.753T>C	ENSP00000502962.1:p.Thr251=
ENST00000679286.1:c.747T>C	ENSP00000503168.1:p.Thr249=
ENST00000318471.4:c.867T>C	ENSP00000315680.3:p.Thr289=
NM_000288.3:c.867T>C	NP_000279.1:p.Thr289=
XM_005267019.3:c.753T>C	XP_005267076.1:p.Thr251=
XM_006715502.1:c.573T>C	XP_006715565.1:p.Thr191=
XM_011535900.1:c.590T>C	XP_011534202.1:p.Leu197Pro
XM_005267019.4:c.753T>C	XP_005267076.1:p.Thr251=
XM_006715502.2:c.573T>C	XP_006715565.1:p.Thr191=
XM_017010934.2:c.590T>C	XP_016866423.1:p.Leu197Pro
NM_000288.4:c.867T>C MANE Select	NP_000279.1:p.Thr289=