Canonical Allele Identifier: CA365766780

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219354A>C (hg19) ; chr6:g.136898216A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898216A>C , CM000668.2:g.136898216A>C	GRCh38
NC_000006.11:g.137219354A>C , CM000668.1:g.137219354A>C	GRCh37
NC_000006.10:g.137261047A>C	NCBI36
NG_008462.1:g.80637A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.878A>C MANE Select	ENSP00000315680.3:p.Asp293Ala
ENST00000541292.6:c.*143A>C	ENSP00000441004.1:n.*143A>C
ENST00000678002.1:c.566A>C
ENST00000678557.1:c.764A>C	ENSP00000502962.1:p.Asp255Ala
ENST00000679286.1:c.758A>C	ENSP00000503168.1:p.Asp253Ala
ENST00000318471.4:c.878A>C	ENSP00000315680.3:p.Asp293Ala
NM_000288.3:c.878A>C	NP_000279.1:p.Asp293Ala
XM_005267019.3:c.764A>C	XP_005267076.1:p.Asp255Ala
XM_006715502.1:c.584A>C	XP_006715565.1:p.Asp195Ala
XM_011535900.1:c.*1A>C	XP_011534202.1:n.*1A>C
XM_005267019.4:c.764A>C	XP_005267076.1:p.Asp255Ala
XM_006715502.2:c.584A>C	XP_006715565.1:p.Asp195Ala
XM_017010934.2:c.*1A>C	XP_016866423.1:n.*1A>C
NM_000288.4:c.878A>C MANE Select	NP_000279.1:p.Asp293Ala