Canonical Allele Identifier: CA365762896

Gene: PEX7

Linked Data

• COSMIC: COSM1220232
• MyVariant Identifiers: chr6:g.137187796G>T (hg19) ; chr6:g.136866658G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866658G>T , CM000668.2:g.136866658G>T	GRCh38
NC_000006.11:g.137187796G>T , CM000668.1:g.137187796G>T	GRCh37
NC_000006.10:g.137229489G>T	NCBI36
NG_008462.1:g.49079G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.558G>T MANE Select	ENSP00000315680.3:p.Lys186Asn
ENST00000541292.6:c.558G>T	ENSP00000441004.1:p.Lys186Asn
ENST00000678002.1:c.246G>T
ENST00000678557.1:c.444G>T	ENSP00000502962.1:p.Lys148Asn
ENST00000678593.1:c.563G>T	ENSP00000503841.1:n.563G>T
ENST00000679286.1:c.438G>T	ENSP00000503168.1:p.Lys146Asn
ENST00000318471.4:c.558G>T	ENSP00000315680.3:p.Lys186Asn
ENST00000541292.5:c.558G>T	ENSP00000441004.1:p.Lys186Asn
NM_000288.3:c.558G>T	NP_000279.1:p.Lys186Asn
XM_005267019.3:c.444G>T	XP_005267076.1:p.Lys148Asn
XM_006715502.1:c.340-3232G>T	XP_006715565.1:n.340-3232G>T
XM_011535900.1:c.526+20477G>T	XP_011534202.1:n.526+20477G>T
XM_005267019.4:c.444G>T	XP_005267076.1:p.Lys148Asn
XM_006715502.2:c.340-3232G>T	XP_006715565.1:n.340-3232G>T
XM_017010934.2:c.526+20477G>T	XP_016866423.1:n.526+20477G>T
NM_000288.4:c.558G>T MANE Select	NP_000279.1:p.Lys186Asn