Canonical Allele Identifier: CA365766786

Gene: PEX7

Linked Data

• ClinVar Variation Id: 597078
• ClinVar RCV Id: RCV000733093
• dbSNP Id: rs1562756846
• MyVariant Identifiers: chr6:g.137219356T>C (hg19) ; chr6:g.136898218T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898218T>C , CM000668.2:g.136898218T>C	GRCh38
NC_000006.11:g.137219356T>C , CM000668.1:g.137219356T>C	GRCh37
NC_000006.10:g.137261049T>C	NCBI36
NG_008462.1:g.80639T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.880T>C MANE Select	ENSP00000315680.3:p.Phe294Leu
ENST00000541292.6:c.*145T>C	ENSP00000441004.1:n.*145T>C
ENST00000678002.1:c.568T>C
ENST00000678557.1:c.766T>C	ENSP00000502962.1:p.Phe256Leu
ENST00000679286.1:c.760T>C	ENSP00000503168.1:p.Phe254Leu
ENST00000318471.4:c.880T>C	ENSP00000315680.3:p.Phe294Leu
NM_000288.3:c.880T>C	NP_000279.1:p.Phe294Leu
XM_005267019.3:c.766T>C	XP_005267076.1:p.Phe256Leu
XM_006715502.1:c.586T>C	XP_006715565.1:p.Phe196Leu
XM_011535900.1:c.*3T>C	XP_011534202.1:n.*3T>C
XM_005267019.4:c.766T>C	XP_005267076.1:p.Phe256Leu
XM_006715502.2:c.586T>C	XP_006715565.1:p.Phe196Leu
XM_017010934.2:c.*3T>C	XP_016866423.1:n.*3T>C
NM_000288.4:c.880T>C MANE Select	NP_000279.1:p.Phe294Leu