Canonical Allele Identifier: CA4017687

Gene: PEX7

Linked Data

• dbSNP Id: rs750601054
• ExAC: 6:137191049 G / T
• gnomAD v2: 6-137191049-G-T
• gnomAD v3: 6-136869911-G-T
• gnomAD v4: 6-136869911-G-T
• MyVariant Identifiers: chr6:g.137191049G>T (hg19) ; chr6:g.136869911G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136869911G>T , CM000668.2:g.136869911G>T	GRCh38
NC_000006.11:g.137191049G>T , CM000668.1:g.137191049G>T	GRCh37
NC_000006.10:g.137232742G>T	NCBI36
NG_008462.1:g.52332G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.655G>T MANE Select	ENSP00000315680.3:p.Val219Phe
ENST00000541292.6:c.655G>T	ENSP00000441004.1:p.Val219Phe
ENST00000678002.1:c.343G>T
ENST00000678557.1:c.541G>T	ENSP00000502962.1:p.Val181Phe
ENST00000678593.1:c.660G>T	ENSP00000503841.1:n.660G>T
ENST00000679286.1:c.535G>T	ENSP00000503168.1:p.Val179Phe
ENST00000318471.4:c.655G>T	ENSP00000315680.3:p.Val219Phe
ENST00000541292.5:c.655G>T	ENSP00000441004.1:p.Val219Phe
NM_000288.3:c.655G>T	NP_000279.1:p.Val219Phe
XM_005267019.3:c.541G>T	XP_005267076.1:p.Val181Phe
XM_006715502.1:c.361G>T	XP_006715565.1:p.Val121Phe
XM_011535900.1:c.526+23730G>T	XP_011534202.1:n.526+23730G>T
XM_005267019.4:c.541G>T	XP_005267076.1:p.Val181Phe
XM_006715502.2:c.361G>T	XP_006715565.1:p.Val121Phe
XM_017010934.2:c.526+23730G>T	XP_016866423.1:n.526+23730G>T
NM_000288.4:c.655G>T MANE Select	NP_000279.1:p.Val219Phe