Canonical Allele Identifier: CA365764141

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137191132G>C (hg19) ; chr6:g.136869994G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136869994G>C , CM000668.2:g.136869994G>C	GRCh38
NC_000006.11:g.137191132G>C , CM000668.1:g.137191132G>C	GRCh37
NC_000006.10:g.137232825G>C	NCBI36
NG_008462.1:g.52415G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.738G>C MANE Select	ENSP00000315680.3:p.Arg246Ser
ENST00000541292.6:c.738G>C	ENSP00000441004.1:p.Arg246Ser
ENST00000678002.1:c.426G>C
ENST00000678557.1:c.624G>C	ENSP00000502962.1:p.Arg208Ser
ENST00000678593.1:c.743G>C	ENSP00000503841.1:n.743G>C
ENST00000679286.1:c.618G>C	ENSP00000503168.1:p.Arg206Ser
ENST00000318471.4:c.738G>C	ENSP00000315680.3:p.Arg246Ser
ENST00000541292.5:c.738G>C	ENSP00000441004.1:p.Arg246Ser
NM_000288.3:c.738G>C	NP_000279.1:p.Arg246Ser
XM_005267019.3:c.624G>C	XP_005267076.1:p.Arg208Ser
XM_006715502.1:c.444G>C	XP_006715565.1:p.Arg148Ser
XM_011535900.1:c.526+23813G>C	XP_011534202.1:n.526+23813G>C
XM_005267019.4:c.624G>C	XP_005267076.1:p.Arg208Ser
XM_006715502.2:c.444G>C	XP_006715565.1:p.Arg148Ser
XM_017010934.2:c.526+23813G>C	XP_016866423.1:n.526+23813G>C
NM_000288.4:c.738G>C MANE Select	NP_000279.1:p.Arg246Ser