Canonical Allele Identifier: CA8952218
Gene: LOXHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46518256C>A , CM000680.2:g.46518256C>A GRCh38
NC_000018.9:g.44098219C>A , CM000680.1:g.44098219C>A GRCh37
NC_000018.8:g.42352217C>A NCBI36
NG_016646.1:g.143778G>T
NG_016646.2:g.143778G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001384474.1:c.5272G>T MANE Select NP_001371403.1:p.Val1758Phe
ENST00000642948.1:c.5272G>T MANE Select ENSP00000496347.1:p.Val1758Phe
NM_001145472.2:c.1939G>T NP_001138944.1:p.Val647Phe
NM_001145472.3:c.1939G>T NP_001138944.1:p.Val647Phe
NM_001145473.2:c.-12G>T NP_001138945.1:n.-12G>T
NM_001145473.3:c.-12G>T NP_001138945.1:n.-12G>T
NM_001173129.1:c.-12G>T NP_001166600.1:n.-12G>T
NM_001173129.2:c.-12G>T NP_001166600.1:n.-12G>T
NM_001308013.1:c.1651G>T NP_001294942.1:p.Val551Phe
NM_001308013.2:c.1651G>T NP_001294942.1:p.Val551Phe
NM_144612.6:c.5086G>T NP_653213.6:p.Val1696Phe
NM_144612.7:c.5086G>T NP_653213.6:p.Val1696Phe
ENST00000300591.10:c.1939G>T ENSP00000300591.6:p.Val647Phe
ENST00000300591.11:c.1939G>T ENSP00000300591.6:p.Val647Phe
ENST00000335730.6:n.4399G>T
ENST00000398686.8:c.-12G>T ENSP00000381676.4:n.-12G>T
ENST00000398705.6:c.-12G>T ENSP00000381692.2:n.-12G>T
ENST00000398705.7:c.-12G>T ENSP00000381692.2:n.-12G>T
ENST00000414184.1:c.-12G>T ENSP00000392440.1:n.-12G>T
ENST00000441551.6:c.4654G>T ENSP00000387621.2:p.Val1552Phe
ENST00000452425.1:c.40G>T ENSP00000414278.1:p.Val14Phe
ENST00000452425.2:c.-12G>T ENSP00000414278.2:n.-12G>T
ENST00000536736.5:c.5086G>T ENSP00000444586.1:p.Val1696Phe
ENST00000579038.5:c.1651G>T ENSP00000463285.1:p.Val551Phe
ENST00000579038.6:c.1651G>T ENSP00000463285.1:p.Val551Phe
ENST00000582408.5:c.1753G>T ENSP00000461964.1:p.Val585Phe
ENST00000582408.6:c.1753G>T ENSP00000461964.1:p.Val585Phe
XM_006722388.2:c.2071G>T XP_006722451.1:p.Val691Phe
XM_006722388.3:c.2071G>T XP_006722451.1:p.Val691Phe
XM_006722389.2:c.1939G>T XP_006722452.1:p.Val647Phe
XM_006722389.3:c.1939G>T XP_006722452.1:p.Val647Phe
XM_006722390.2:c.1939G>T XP_006722453.1:p.Val647Phe
XM_006722390.3:c.1939G>T XP_006722453.1:p.Val647Phe
XM_006722391.2:c.1885G>T XP_006722454.1:p.Val629Phe
XM_006722391.3:c.1885G>T XP_006722454.1:p.Val629Phe
XM_011525803.1:c.5272G>T XP_011524105.1:p.Val1758Phe
XM_011525804.1:c.3433G>T XP_011524106.1:p.Val1145Phe
XM_011525804.2:c.3433G>T XP_011524106.1:p.Val1145Phe
XM_011525805.1:c.1936G>T XP_011524107.1:p.Val646Phe
XM_011525806.1:c.1651G>T XP_011524108.1:p.Val551Phe
XM_011525807.1:c.1651G>T XP_011524109.1:p.Val551Phe
XM_011525809.1:c.1651G>T XP_011524111.1:p.Val551Phe
XM_011525810.1:c.40G>T XP_011524112.1:p.Val14Phe
XM_011525810.2:c.40G>T XP_011524112.1:p.Val14Phe
XM_011525811.1:c.-12G>T XP_011524113.1:n.-12G>T
XM_011525811.2:c.-12G>T XP_011524113.1:n.-12G>T
XM_017025548.1:c.4654G>T XP_016881037.1:p.Val1552Phe
XM_024451084.1:c.3754G>T XP_024306852.1:p.Val1252Phe
XM_024451085.1:c.1936G>T XP_024306853.1:p.Val646Phe
XM_024451086.1:c.1651G>T XP_024306854.1:p.Val551Phe
XM_024451087.1:c.1651G>T XP_024306855.1:p.Val551Phe
XM_024451088.1:c.1651G>T XP_024306856.1:p.Val551Phe