Canonical Allele Identifier: CA365764412

Gene: PEX7

Linked Data

• gnomAD v4: 6-136872211-A-C
• MyVariant Identifiers: chr6:g.137193349A>C (hg19) ; chr6:g.136872211A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872211A>C , CM000668.2:g.136872211A>C	GRCh38
NC_000006.11:g.137193349A>C , CM000668.1:g.137193349A>C	GRCh37
NC_000006.10:g.137235042A>C	NCBI36
NG_008462.1:g.54632A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.761A>C MANE Select	ENSP00000315680.3:p.His254Pro
ENST00000541292.6:c.*26A>C	ENSP00000441004.1:n.*26A>C
ENST00000678002.1:c.449A>C
ENST00000678557.1:c.647A>C	ENSP00000502962.1:p.His216Pro
ENST00000678593.1:c.766A>C	ENSP00000503841.1:n.766A>C
ENST00000679286.1:c.641A>C	ENSP00000503168.1:p.His214Pro
ENST00000318471.4:c.761A>C	ENSP00000315680.3:p.His254Pro
NM_000288.3:c.761A>C	NP_000279.1:p.His254Pro
XM_005267019.3:c.647A>C	XP_005267076.1:p.His216Pro
XM_006715502.1:c.467A>C	XP_006715565.1:p.His156Pro
XM_011535900.1:c.527-25931A>C	XP_011534202.1:n.527-25931A>C
XM_005267019.4:c.647A>C	XP_005267076.1:p.His216Pro
XM_006715502.2:c.467A>C	XP_006715565.1:p.His156Pro
XM_017010934.2:c.527-25931A>C	XP_016866423.1:n.527-25931A>C
NM_000288.4:c.761A>C MANE Select	NP_000279.1:p.His254Pro