Canonical Allele Identifier: CA365764402

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137193345T>C (hg19) ; chr6:g.136872207T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872207T>C , CM000668.2:g.136872207T>C	GRCh38
NC_000006.11:g.137193345T>C , CM000668.1:g.137193345T>C	GRCh37
NC_000006.10:g.137235038T>C	NCBI36
NG_008462.1:g.54628T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.757T>C MANE Select	ENSP00000315680.3:p.Phe253Leu
ENST00000541292.6:c.*22T>C	ENSP00000441004.1:n.*22T>C
ENST00000678002.1:c.445T>C
ENST00000678557.1:c.643T>C	ENSP00000502962.1:p.Phe215Leu
ENST00000678593.1:c.762T>C	ENSP00000503841.1:n.762T>C
ENST00000679286.1:c.637T>C	ENSP00000503168.1:p.Phe213Leu
ENST00000318471.4:c.757T>C	ENSP00000315680.3:p.Phe253Leu
NM_000288.3:c.757T>C	NP_000279.1:p.Phe253Leu
XM_005267019.3:c.643T>C	XP_005267076.1:p.Phe215Leu
XM_006715502.1:c.463T>C	XP_006715565.1:p.Phe155Leu
XM_011535900.1:c.527-25935T>C	XP_011534202.1:n.527-25935T>C
XM_005267019.4:c.643T>C	XP_005267076.1:p.Phe215Leu
XM_006715502.2:c.463T>C	XP_006715565.1:p.Phe155Leu
XM_017010934.2:c.527-25935T>C	XP_016866423.1:n.527-25935T>C
NM_000288.4:c.757T>C MANE Select	NP_000279.1:p.Phe253Leu