Canonical Allele Identifier: CA365766643

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219320G>C (hg19) ; chr6:g.136898182G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898182G>C , CM000668.2:g.136898182G>C	GRCh38
NC_000006.11:g.137219320G>C , CM000668.1:g.137219320G>C	GRCh37
NC_000006.10:g.137261013G>C	NCBI36
NG_008462.1:g.80603G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.844G>C MANE Select	ENSP00000315680.3:p.Val282Leu
ENST00000541292.6:c.*109G>C	ENSP00000441004.1:n.*109G>C
ENST00000678002.1:c.532G>C
ENST00000678557.1:c.730G>C	ENSP00000502962.1:p.Val244Leu
ENST00000679286.1:c.724G>C	ENSP00000503168.1:p.Val242Leu
ENST00000318471.4:c.844G>C	ENSP00000315680.3:p.Val282Leu
NM_000288.3:c.844G>C	NP_000279.1:p.Val282Leu
XM_005267019.3:c.730G>C	XP_005267076.1:p.Val244Leu
XM_006715502.1:c.550G>C	XP_006715565.1:p.Val184Leu
XM_011535900.1:c.567G>C	XP_011534202.1:p.Gln189His
XM_005267019.4:c.730G>C	XP_005267076.1:p.Val244Leu
XM_006715502.2:c.550G>C	XP_006715565.1:p.Val184Leu
XM_017010934.2:c.567G>C	XP_016866423.1:p.Gln189His
NM_000288.4:c.844G>C MANE Select	NP_000279.1:p.Val282Leu