Canonical Allele Identifier: CA2680488249

Gene: PEX7

Linked Data

• gnomAD v4: 6-136826509-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826509T>G , CM000668.2:g.136826509T>G	GRCh38
NC_000006.11:g.137147647T>G , CM000668.1:g.137147647T>G	GRCh37
NC_000006.10:g.137189340T>G	NCBI36
NG_008462.1:g.8930T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.339+40T>G MANE Select	ENSP00000315680.3:n.339+40T>G
ENST00000541292.6:c.339+40T>G	ENSP00000441004.1:n.339+40T>G
ENST00000678002.1:c.214+40T>G
ENST00000678557.1:c.225+40T>G	ENSP00000502962.1:n.225+40T>G
ENST00000678593.1:c.344+40T>G	ENSP00000503841.1:n.344+40T>G
ENST00000679286.1:c.219+40T>G	ENSP00000503168.1:n.219+40T>G
ENST00000318471.4:c.339+40T>G	ENSP00000315680.3:n.339+40T>G
ENST00000367756.8:c.339+40T>G	ENSP00000356730.4:n.339+40T>G
ENST00000541292.5:c.339+40T>G	ENSP00000441004.1:n.339+40T>G
NM_000288.3:c.339+40T>G	NP_000279.1:n.339+40T>G
XM_005267019.3:c.225+40T>G	XP_005267076.1:n.225+40T>G
XM_006715502.1:c.339+40T>G	XP_006715565.1:n.339+40T>G
XM_011535900.1:c.339+40T>G	XP_011534202.1:n.339+40T>G
XM_005267019.4:c.225+40T>G	XP_005267076.1:n.225+40T>G
XM_006715502.2:c.339+40T>G	XP_006715565.1:n.339+40T>G
XM_017010934.2:c.339+40T>G	XP_016866423.1:n.339+40T>G
NM_000288.4:c.339+40T>G MANE Select	NP_000279.1:n.339+40T>G