Canonical Allele Identifier: CA365766791

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219357T>C (hg19) ; chr6:g.136898219T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898219T>C , CM000668.2:g.136898219T>C	GRCh38
NC_000006.11:g.137219357T>C , CM000668.1:g.137219357T>C	GRCh37
NC_000006.10:g.137261050T>C	NCBI36
NG_008462.1:g.80640T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.881T>C MANE Select	ENSP00000315680.3:p.Phe294Ser
ENST00000541292.6:c.*146T>C	ENSP00000441004.1:n.*146T>C
ENST00000678002.1:c.569T>C
ENST00000678557.1:c.767T>C	ENSP00000502962.1:p.Phe256Ser
ENST00000679286.1:c.761T>C	ENSP00000503168.1:p.Phe254Ser
ENST00000318471.4:c.881T>C	ENSP00000315680.3:p.Phe294Ser
NM_000288.3:c.881T>C	NP_000279.1:p.Phe294Ser
XM_005267019.3:c.767T>C	XP_005267076.1:p.Phe256Ser
XM_006715502.1:c.587T>C	XP_006715565.1:p.Phe196Ser
XM_011535900.1:c.*4T>C	XP_011534202.1:n.*4T>C
XM_005267019.4:c.767T>C	XP_005267076.1:p.Phe256Ser
XM_006715502.2:c.587T>C	XP_006715565.1:p.Phe196Ser
XM_017010934.2:c.*4T>C	XP_016866423.1:n.*4T>C
NM_000288.4:c.881T>C MANE Select	NP_000279.1:p.Phe294Ser