Canonical Allele Identifier: CA879842

Gene: HOOK1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.59872882C>T , CM000663.2:g.59872882C>T	GRCh38
NC_000001.10:g.60338554C>T , CM000663.1:g.60338554C>T	GRCh37
NC_000001.9:g.60111142C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465876.6:n.2128C>T
ENST00000466803.2:n.1362C>T
ENST00000685567.1:c.*306C>T	ENSP00000509959.1:n.*306C>T
ENST00000686522.1:c.*2098C>T	ENSP00000509232.1:n.*2098C>T
ENST00000687049.1:c.1849C>T	ENSP00000509189.1:p.Arg617Trp
ENST00000371208.5:c.2104C>T MANE Select	ENSP00000360252.3:p.Arg702Trp
ENST00000371208.3:c.2104C>T	ENSP00000360252.3:p.Arg702Trp
ENST00000465876.5:n.2103C>T
ENST00000466803.1:n.967C>T
ENST00000491135.1:n.322C>T
NM_015888.4:c.2104C>T	NP_056972.1:p.Arg702Trp
XM_011541562.1:c.1978C>T	XP_011539864.1:p.Arg660Trp
XR_946665.1:n.2182C>T
XM_011541562.2:c.1978C>T	XP_011539864.1:p.Arg660Trp
XM_024447520.1:c.1978C>T	XP_024303288.1:p.Arg660Trp
NM_015888.5:c.2104C>T	NP_056972.1:p.Arg702Trp
NM_015888.6:c.2104C>T MANE Select	NP_056972.1:p.Arg702Trp