Canonical Allele Identifier: CA365766556

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219293T>C (hg19) ; chr6:g.136898155T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898155T>C , CM000668.2:g.136898155T>C	GRCh38
NC_000006.11:g.137219293T>C , CM000668.1:g.137219293T>C	GRCh37
NC_000006.10:g.137260986T>C	NCBI36
NG_008462.1:g.80576T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.817T>C MANE Select	ENSP00000315680.3:p.Ser273Pro
ENST00000541292.6:c.*82T>C	ENSP00000441004.1:n.*82T>C
ENST00000678002.1:c.505T>C
ENST00000678557.1:c.703T>C	ENSP00000502962.1:p.Ser235Pro
ENST00000679286.1:c.697T>C	ENSP00000503168.1:p.Ser233Pro
ENST00000318471.4:c.817T>C	ENSP00000315680.3:p.Ser273Pro
NM_000288.3:c.817T>C	NP_000279.1:p.Ser273Pro
XM_005267019.3:c.703T>C	XP_005267076.1:p.Ser235Pro
XM_006715502.1:c.523T>C	XP_006715565.1:p.Ser175Pro
XM_011535900.1:c.540T>C	XP_011534202.1:p.Phe180=
XM_005267019.4:c.703T>C	XP_005267076.1:p.Ser235Pro
XM_006715502.2:c.523T>C	XP_006715565.1:p.Ser175Pro
XM_017010934.2:c.540T>C	XP_016866423.1:p.Phe180=
NM_000288.4:c.817T>C MANE Select	NP_000279.1:p.Ser273Pro