Canonical Allele Identifier: CA4017767

Gene: PEX7

Linked Data

• dbSNP Id: rs764258723
• ExAC: 6:137193417 T / C
• gnomAD v2: 6-137193417-T-C
• gnomAD v4: 6-136872279-T-C
• MyVariant Identifiers: chr6:g.137193417T>C (hg19) ; chr6:g.136872279T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872279T>C , CM000668.2:g.136872279T>C	GRCh38
NC_000006.11:g.137193417T>C , CM000668.1:g.137193417T>C	GRCh37
NC_000006.10:g.137235110T>C	NCBI36
NG_008462.1:g.54700T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.803+26T>C MANE Select	ENSP00000315680.3:n.803+26T>C
ENST00000541292.6:c.*68+26T>C	ENSP00000441004.1:n.*68+26T>C
ENST00000678002.1:c.491+26T>C
ENST00000678557.1:c.689+26T>C	ENSP00000502962.1:n.689+26T>C
ENST00000678593.1:c.834T>C	ENSP00000503841.1:n.834T>C
ENST00000679286.1:c.683+26T>C	ENSP00000503168.1:n.683+26T>C
ENST00000318471.4:c.803+26T>C	ENSP00000315680.3:n.803+26T>C
NM_000288.3:c.803+26T>C	NP_000279.1:n.803+26T>C
XM_005267019.3:c.689+26T>C	XP_005267076.1:n.689+26T>C
XM_006715502.1:c.509+26T>C	XP_006715565.1:n.509+26T>C
XM_011535900.1:c.527-25863T>C	XP_011534202.1:n.527-25863T>C
XM_005267019.4:c.689+26T>C	XP_005267076.1:n.689+26T>C
XM_006715502.2:c.509+26T>C	XP_006715565.1:n.509+26T>C
XM_017010934.2:c.527-25863T>C	XP_016866423.1:n.527-25863T>C
NM_000288.4:c.803+26T>C MANE Select	NP_000279.1:n.803+26T>C