Canonical Allele Identifier: CA365766551

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219291T>C (hg19) ; chr6:g.136898153T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898153T>C , CM000668.2:g.136898153T>C	GRCh38
NC_000006.11:g.137219291T>C , CM000668.1:g.137219291T>C	GRCh37
NC_000006.10:g.137260984T>C	NCBI36
NG_008462.1:g.80574T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.815T>C MANE Select	ENSP00000315680.3:p.Phe272Ser
ENST00000541292.6:c.*80T>C	ENSP00000441004.1:n.*80T>C
ENST00000678002.1:c.503T>C
ENST00000678557.1:c.701T>C	ENSP00000502962.1:p.Phe234Ser
ENST00000679286.1:c.695T>C	ENSP00000503168.1:p.Phe232Ser
ENST00000318471.4:c.815T>C	ENSP00000315680.3:p.Phe272Ser
NM_000288.3:c.815T>C	NP_000279.1:p.Phe272Ser
XM_005267019.3:c.701T>C	XP_005267076.1:p.Phe234Ser
XM_006715502.1:c.521T>C	XP_006715565.1:p.Phe174Ser
XM_011535900.1:c.538T>C	XP_011534202.1:p.Phe180Leu
XM_005267019.4:c.701T>C	XP_005267076.1:p.Phe234Ser
XM_006715502.2:c.521T>C	XP_006715565.1:p.Phe174Ser
XM_017010934.2:c.538T>C	XP_016866423.1:p.Phe180Leu
NM_000288.4:c.815T>C MANE Select	NP_000279.1:p.Phe272Ser