Canonical Allele Identifier: CA452228797

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137193374G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872236G>C , CM000668.2:g.136872236G>C	GRCh38
NC_000006.11:g.137193374G>C , CM000668.1:g.137193374G>C	GRCh37
NC_000006.10:g.137235067G>C	NCBI36
NG_008462.1:g.54657G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.786G>C MANE Select	ENSP00000315680.3:p.Ser262=
ENST00000541292.6:c.*51G>C	ENSP00000441004.1:n.*51G>C
ENST00000678002.1:c.474G>C
ENST00000678557.1:c.672G>C	ENSP00000502962.1:p.Ser224=
ENST00000678593.1:c.791G>C	ENSP00000503841.1:n.791G>C
ENST00000679286.1:c.666G>C	ENSP00000503168.1:p.Ser222=
ENST00000318471.4:c.786G>C	ENSP00000315680.3:p.Ser262=
NM_000288.3:c.786G>C	NP_000279.1:p.Ser262=
XM_005267019.3:c.672G>C	XP_005267076.1:p.Ser224=
XM_006715502.1:c.492G>C	XP_006715565.1:p.Ser164=
XM_011535900.1:c.527-25906G>C	XP_011534202.1:n.527-25906G>C
XM_005267019.4:c.672G>C	XP_005267076.1:p.Ser224=
XM_006715502.2:c.492G>C	XP_006715565.1:p.Ser164=
XM_017010934.2:c.527-25906G>C	XP_016866423.1:n.527-25906G>C
NM_000288.4:c.786G>C MANE Select	NP_000279.1:p.Ser262=