Canonical Allele Identifier: CA8952042

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46477834C>T , CM000680.2:g.46477834C>T	GRCh38
NC_000018.9:g.44057797C>T , CM000680.1:g.44057797C>T	GRCh37
NC_000018.8:g.42311795C>T	NCBI36
NG_016646.1:g.184200G>A
NG_016646.2:g.184200G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001384474.1:c.6460G>A MANE Select	NP_001371403.1:p.Val2154Ile
ENST00000642948.1:c.6460G>A MANE Select	ENSP00000496347.1:p.Val2154Ile
NM_001145472.2:c.3127G>A	NP_001138944.1:p.Val1043Ile
NM_001145472.3:c.3127G>A	NP_001138944.1:p.Val1043Ile
NM_001145473.2:c.1177G>A	NP_001138945.1:p.Val393Ile
NM_001145473.3:c.1177G>A	NP_001138945.1:p.Val393Ile
NM_001173129.1:c.1177G>A	NP_001166600.1:p.Val393Ile
NM_001173129.2:c.1177G>A	NP_001166600.1:p.Val393Ile
NM_001308013.1:c.2839G>A	NP_001294942.1:p.Val947Ile
NM_001308013.2:c.2839G>A	NP_001294942.1:p.Val947Ile
NM_144612.6:c.6274G>A	NP_653213.6:p.Val2092Ile
NM_144612.7:c.6274G>A	NP_653213.6:p.Val2092Ile
ENST00000300591.10:c.3127G>A	ENSP00000300591.6:p.Val1043Ile
ENST00000300591.11:c.3127G>A	ENSP00000300591.6:p.Val1043Ile
ENST00000398686.8:c.1177G>A	ENSP00000381676.4:p.Val393Ile
ENST00000398705.6:c.1177G>A	ENSP00000381692.2:p.Val393Ile
ENST00000398705.7:c.1177G>A	ENSP00000381692.2:p.Val393Ile
ENST00000441551.6:c.5842G>A	ENSP00000387621.2:p.Val1948Ile
ENST00000536736.5:c.6274G>A	ENSP00000444586.1:p.Val2092Ile
ENST00000579038.5:c.2839G>A	ENSP00000463285.1:p.Val947Ile
ENST00000579038.6:c.2839G>A	ENSP00000463285.1:p.Val947Ile
ENST00000582408.5:c.2941G>A	ENSP00000461964.1:p.Val981Ile
ENST00000582408.6:c.2941G>A	ENSP00000461964.1:p.Val981Ile
XM_006722388.2:c.3259G>A	XP_006722451.1:p.Val1087Ile
XM_006722388.3:c.3259G>A	XP_006722451.1:p.Val1087Ile
XM_006722389.2:c.3127G>A	XP_006722452.1:p.Val1043Ile
XM_006722389.3:c.3127G>A	XP_006722452.1:p.Val1043Ile
XM_006722390.2:c.3127G>A	XP_006722453.1:p.Val1043Ile
XM_006722390.3:c.3127G>A	XP_006722453.1:p.Val1043Ile
XM_006722391.2:c.3073G>A	XP_006722454.1:p.Val1025Ile
XM_006722391.3:c.3073G>A	XP_006722454.1:p.Val1025Ile
XM_011525803.1:c.6460G>A	XP_011524105.1:p.Val2154Ile
XM_011525804.1:c.4621G>A	XP_011524106.1:p.Val1541Ile
XM_011525804.2:c.4621G>A	XP_011524106.1:p.Val1541Ile
XM_011525805.1:c.3124G>A	XP_011524107.1:p.Val1042Ile
XM_011525806.1:c.2839G>A	XP_011524108.1:p.Val947Ile
XM_011525807.1:c.2839G>A	XP_011524109.1:p.Val947Ile
XM_011525809.1:c.2839G>A	XP_011524111.1:p.Val947Ile
XM_011525810.1:c.1228G>A	XP_011524112.1:p.Val410Ile
XM_011525810.2:c.1228G>A	XP_011524112.1:p.Val410Ile
XM_011525811.1:c.1177G>A	XP_011524113.1:p.Val393Ile
XM_011525811.2:c.1177G>A	XP_011524113.1:p.Val393Ile
XM_017025548.1:c.5842G>A	XP_016881037.1:p.Val1948Ile
XM_024451084.1:c.4942G>A	XP_024306852.1:p.Val1648Ile
XM_024451085.1:c.3124G>A	XP_024306853.1:p.Val1042Ile
XM_024451086.1:c.2839G>A	XP_024306854.1:p.Val947Ile
XM_024451087.1:c.2839G>A	XP_024306855.1:p.Val947Ile
XM_024451088.1:c.2839G>A	XP_024306856.1:p.Val947Ile