Canonical Allele Identifier: CA452231777

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219295A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898157A>C , CM000668.2:g.136898157A>C	GRCh38
NC_000006.11:g.137219295A>C , CM000668.1:g.137219295A>C	GRCh37
NC_000006.10:g.137260988A>C	NCBI36
NG_008462.1:g.80578A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.819A>C MANE Select	ENSP00000315680.3:p.Ser273=
ENST00000541292.6:c.*84A>C	ENSP00000441004.1:n.*84A>C
ENST00000678002.1:c.507A>C
ENST00000678557.1:c.705A>C	ENSP00000502962.1:p.Ser235=
ENST00000679286.1:c.699A>C	ENSP00000503168.1:p.Ser233=
ENST00000318471.4:c.819A>C	ENSP00000315680.3:p.Ser273=
NM_000288.3:c.819A>C	NP_000279.1:p.Ser273=
XM_005267019.3:c.705A>C	XP_005267076.1:p.Ser235=
XM_006715502.1:c.525A>C	XP_006715565.1:p.Ser175=
XM_011535900.1:c.542A>C	XP_011534202.1:p.Gln181Pro
XM_005267019.4:c.705A>C	XP_005267076.1:p.Ser235=
XM_006715502.2:c.525A>C	XP_006715565.1:p.Ser175=
XM_017010934.2:c.542A>C	XP_016866423.1:p.Gln181Pro
NM_000288.4:c.819A>C MANE Select	NP_000279.1:p.Ser273=