Canonical Allele Identifier: CA570574088

Gene: PEX7

Linked Data

• dbSNP Id: rs1372568888
• gnomAD v2: 6-137193401-T-C
• gnomAD v4: 6-136872263-T-C
• MyVariant Identifiers: chr6:g.137193401T>C (hg19) ; chr6:g.136872263T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872263T>C , CM000668.2:g.136872263T>C	GRCh38
NC_000006.11:g.137193401T>C , CM000668.1:g.137193401T>C	GRCh37
NC_000006.10:g.137235094T>C	NCBI36
NG_008462.1:g.54684T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.803+10T>C MANE Select	ENSP00000315680.3:n.803+10T>C
ENST00000541292.6:c.*68+10T>C	ENSP00000441004.1:n.*68+10T>C
ENST00000678002.1:c.491+10T>C
ENST00000678557.1:c.689+10T>C	ENSP00000502962.1:n.689+10T>C
ENST00000678593.1:c.818T>C	ENSP00000503841.1:n.818T>C
ENST00000679286.1:c.683+10T>C	ENSP00000503168.1:n.683+10T>C
ENST00000318471.4:c.803+10T>C	ENSP00000315680.3:n.803+10T>C
NM_000288.3:c.803+10T>C	NP_000279.1:n.803+10T>C
XM_005267019.3:c.689+10T>C	XP_005267076.1:n.689+10T>C
XM_006715502.1:c.509+10T>C	XP_006715565.1:n.509+10T>C
XM_011535900.1:c.527-25879T>C	XP_011534202.1:n.527-25879T>C
XM_005267019.4:c.689+10T>C	XP_005267076.1:n.689+10T>C
XM_006715502.2:c.509+10T>C	XP_006715565.1:n.509+10T>C
XM_017010934.2:c.527-25879T>C	XP_016866423.1:n.527-25879T>C
NM_000288.4:c.803+10T>C MANE Select	NP_000279.1:n.803+10T>C