Canonical Allele Identifier: CA452231799

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219322G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898184G>T , CM000668.2:g.136898184G>T	GRCh38
NC_000006.11:g.137219322G>T , CM000668.1:g.137219322G>T	GRCh37
NC_000006.10:g.137261015G>T	NCBI36
NG_008462.1:g.80605G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.846G>T MANE Select	ENSP00000315680.3:p.Val282=
ENST00000541292.6:c.*111G>T	ENSP00000441004.1:n.*111G>T
ENST00000678002.1:c.534G>T
ENST00000678557.1:c.732G>T	ENSP00000502962.1:p.Val244=
ENST00000679286.1:c.726G>T	ENSP00000503168.1:p.Val242=
ENST00000318471.4:c.846G>T	ENSP00000315680.3:p.Val282=
NM_000288.3:c.846G>T	NP_000279.1:p.Val282=
XM_005267019.3:c.732G>T	XP_005267076.1:p.Val244=
XM_006715502.1:c.552G>T	XP_006715565.1:p.Val184=
XM_011535900.1:c.569G>T	XP_011534202.1:p.Trp190Leu
XM_005267019.4:c.732G>T	XP_005267076.1:p.Val244=
XM_006715502.2:c.552G>T	XP_006715565.1:p.Val184=
XM_017010934.2:c.569G>T	XP_016866423.1:p.Trp190Leu
NM_000288.4:c.846G>T MANE Select	NP_000279.1:p.Val282=