Canonical Allele Identifier: CA365855483

Gene: PEX7

Linked Data

• dbSNP Id: rs267608253
• gnomAD v4: 6-136822796-G-T
• MyVariant Identifiers: chr6:g.137143934G>T (hg19) ; chr6:g.136822796G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822796G>T , CM000668.2:g.136822796G>T	GRCh38
NC_000006.11:g.137143934G>T , CM000668.1:g.137143934G>T	GRCh37
NC_000006.10:g.137185627G>T	NCBI36
NG_008462.1:g.5217G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.130+1G>T MANE Select	ENSP00000315680.3:n.130+1G>T
ENST00000541292.6:c.130+1G>T	ENSP00000441004.1:n.130+1G>T
ENST00000678593.1:c.130+1G>T	ENSP00000503841.1:n.130+1G>T
ENST00000318471.4:c.130+1G>T	ENSP00000315680.3:n.130+1G>T
ENST00000367756.8:c.130+1G>T	ENSP00000356730.4:n.130+1G>T
ENST00000541292.5:c.130+1G>T	ENSP00000441004.1:n.130+1G>T
NM_000288.3:c.130+1G>T	NP_000279.1:n.130+1G>T
XM_006715502.1:c.130+1G>T	XP_006715565.1:n.130+1G>T
XM_011535900.1:c.130+1G>T	XP_011534202.1:n.130+1G>T
XM_006715502.2:c.130+1G>T	XP_006715565.1:n.130+1G>T
XM_017010934.2:c.130+1G>T	XP_016866423.1:n.130+1G>T
NM_000288.4:c.130+1G>T MANE Select	NP_000279.1:n.130+1G>T