Canonical Allele Identifier: CA365763938

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137191033G>C (hg19) ; chr6:g.136869895G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136869895G>C , CM000668.2:g.136869895G>C	GRCh38
NC_000006.11:g.137191033G>C , CM000668.1:g.137191033G>C	GRCh37
NC_000006.10:g.137232726G>C	NCBI36
NG_008462.1:g.52316G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.639G>C MANE Select	ENSP00000315680.3:p.Leu213Phe
ENST00000541292.6:c.639G>C	ENSP00000441004.1:p.Leu213Phe
ENST00000678002.1:c.327G>C
ENST00000678557.1:c.525G>C	ENSP00000502962.1:p.Leu175Phe
ENST00000678593.1:c.644G>C	ENSP00000503841.1:n.644G>C
ENST00000679286.1:c.519G>C	ENSP00000503168.1:p.Leu173Phe
ENST00000318471.4:c.639G>C	ENSP00000315680.3:p.Leu213Phe
ENST00000541292.5:c.639G>C	ENSP00000441004.1:p.Leu213Phe
NM_000288.3:c.639G>C	NP_000279.1:p.Leu213Phe
XM_005267019.3:c.525G>C	XP_005267076.1:p.Leu175Phe
XM_006715502.1:c.345G>C	XP_006715565.1:p.Leu115Phe
XM_011535900.1:c.526+23714G>C	XP_011534202.1:n.526+23714G>C
XM_005267019.4:c.525G>C	XP_005267076.1:p.Leu175Phe
XM_006715502.2:c.345G>C	XP_006715565.1:p.Leu115Phe
XM_017010934.2:c.526+23714G>C	XP_016866423.1:n.526+23714G>C
NM_000288.4:c.639G>C MANE Select	NP_000279.1:p.Leu213Phe