Canonical Allele Identifier: CA365762880

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137187794A>C (hg19) ; chr6:g.136866656A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866656A>C , CM000668.2:g.136866656A>C	GRCh38
NC_000006.11:g.137187794A>C , CM000668.1:g.137187794A>C	GRCh37
NC_000006.10:g.137229487A>C	NCBI36
NG_008462.1:g.49077A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.556A>C MANE Select	ENSP00000315680.3:p.Lys186Gln
ENST00000541292.6:c.556A>C	ENSP00000441004.1:p.Lys186Gln
ENST00000678002.1:c.244A>C
ENST00000678557.1:c.442A>C	ENSP00000502962.1:p.Lys148Gln
ENST00000678593.1:c.561A>C	ENSP00000503841.1:n.561A>C
ENST00000679286.1:c.436A>C	ENSP00000503168.1:p.Lys146Gln
ENST00000318471.4:c.556A>C	ENSP00000315680.3:p.Lys186Gln
ENST00000541292.5:c.556A>C	ENSP00000441004.1:p.Lys186Gln
NM_000288.3:c.556A>C	NP_000279.1:p.Lys186Gln
XM_005267019.3:c.442A>C	XP_005267076.1:p.Lys148Gln
XM_006715502.1:c.340-3234A>C	XP_006715565.1:n.340-3234A>C
XM_011535900.1:c.526+20475A>C	XP_011534202.1:n.526+20475A>C
XM_005267019.4:c.442A>C	XP_005267076.1:p.Lys148Gln
XM_006715502.2:c.340-3234A>C	XP_006715565.1:n.340-3234A>C
XM_017010934.2:c.526+20475A>C	XP_016866423.1:n.526+20475A>C
NM_000288.4:c.556A>C MANE Select	NP_000279.1:p.Lys186Gln