Canonical Allele Identifier: CA4017547

Gene: PEX7

Linked Data

• dbSNP Id: rs751932626
• ExAC: 6:137147575 C / A
• gnomAD v2: 6-137147575-C-A
• gnomAD v3: 6-136826437-C-A
• gnomAD v4: 6-136826437-C-A
• MyVariant Identifiers: chr6:g.137147575C>A (hg19) ; chr6:g.136826437C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826437C>A , CM000668.2:g.136826437C>A	GRCh38
NC_000006.11:g.137147575C>A , CM000668.1:g.137147575C>A	GRCh37
NC_000006.10:g.137189268C>A	NCBI36
NG_008462.1:g.8858C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.307C>A MANE Select	ENSP00000315680.3:p.Pro103Thr
ENST00000541292.6:c.307C>A	ENSP00000441004.1:p.Pro103Thr
ENST00000678002.1:c.182C>A
ENST00000678557.1:c.193C>A	ENSP00000502962.1:p.Pro65Thr
ENST00000678593.1:c.312C>A	ENSP00000503841.1:n.312C>A
ENST00000679286.1:c.187C>A	ENSP00000503168.1:p.Pro63Thr
ENST00000318471.4:c.307C>A	ENSP00000315680.3:p.Pro103Thr
ENST00000367756.8:c.307C>A	ENSP00000356730.4:p.Pro103Thr
ENST00000541292.5:c.307C>A	ENSP00000441004.1:p.Pro103Thr
NM_000288.3:c.307C>A	NP_000279.1:p.Pro103Thr
XM_005267019.3:c.193C>A	XP_005267076.1:p.Pro65Thr
XM_006715502.1:c.307C>A	XP_006715565.1:p.Pro103Thr
XM_011535900.1:c.307C>A	XP_011534202.1:p.Pro103Thr
XM_005267019.4:c.193C>A	XP_005267076.1:p.Pro65Thr
XM_006715502.2:c.307C>A	XP_006715565.1:p.Pro103Thr
XM_017010934.2:c.307C>A	XP_016866423.1:p.Pro103Thr
NM_000288.4:c.307C>A MANE Select	NP_000279.1:p.Pro103Thr