Canonical Allele Identifier: CA365762870

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137187791G>T (hg19) ; chr6:g.136866653G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866653G>T , CM000668.2:g.136866653G>T	GRCh38
NC_000006.11:g.137187791G>T , CM000668.1:g.137187791G>T	GRCh37
NC_000006.10:g.137229484G>T	NCBI36
NG_008462.1:g.49074G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.553G>T MANE Select	ENSP00000315680.3:p.Val185Leu
ENST00000541292.6:c.553G>T	ENSP00000441004.1:p.Val185Leu
ENST00000678002.1:c.241G>T
ENST00000678557.1:c.439G>T	ENSP00000502962.1:p.Val147Leu
ENST00000678593.1:c.558G>T	ENSP00000503841.1:n.558G>T
ENST00000679286.1:c.433G>T	ENSP00000503168.1:p.Val145Leu
ENST00000318471.4:c.553G>T	ENSP00000315680.3:p.Val185Leu
ENST00000541292.5:c.553G>T	ENSP00000441004.1:p.Val185Leu
NM_000288.3:c.553G>T	NP_000279.1:p.Val185Leu
XM_005267019.3:c.439G>T	XP_005267076.1:p.Val147Leu
XM_006715502.1:c.340-3237G>T	XP_006715565.1:n.340-3237G>T
XM_011535900.1:c.526+20472G>T	XP_011534202.1:n.526+20472G>T
XM_005267019.4:c.439G>T	XP_005267076.1:p.Val147Leu
XM_006715502.2:c.340-3237G>T	XP_006715565.1:n.340-3237G>T
XM_017010934.2:c.526+20472G>T	XP_016866423.1:n.526+20472G>T
NM_000288.4:c.553G>T MANE Select	NP_000279.1:p.Val185Leu