Canonical Allele Identifier: CA339588864

Gene: HCRTR1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.31626924A>C , CM000663.2:g.31626924A>C	GRCh38
NC_000001.10:g.32092525A>C , CM000663.1:g.32092525A>C	GRCh37
NC_000001.9:g.31865112A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403528.7:c.1222A>C MANE Select	ENSP00000384387.2:p.Ile408Leu
ENST00000686354.1:n.1375A>C
ENST00000373705.1:c.1087+1806A>C	ENSP00000362809.1:n.1087+1806A>C
ENST00000373706.9:c.1222A>C	ENSP00000362810.5:p.Ile408Leu
ENST00000403528.6:c.1222A>C	ENSP00000384387.2:p.Ile408Leu
ENST00000468521.1:n.1414-399A>C
NM_001525.2:c.1222A>C	NP_001516.2:p.Ile408Leu
XM_011541308.1:c.1222A>C	XP_011539610.1:p.Ile408Leu
XM_017001107.1:c.1087+1806A>C	XP_016856596.1:n.1087+1806A>C
XM_024446602.1:c.1222A>C	XP_024302370.1:p.Ile408Leu
XM_024446603.1:c.1222A>C	XP_024302371.1:p.Ile408Leu
XM_024446604.1:c.1222A>C	XP_024302372.1:p.Ile408Leu
XM_024446605.1:c.1222A>C	XP_024302373.1:p.Ile408Leu
NM_001525.3:c.1222A>C MANE Select	NP_001516.2:p.Ile408Leu