Canonical Allele Identifier: CA368214338
Community Standard Title: NM_001742.4(CALCR):c.1340T>G (p.Leu447Arg)
Gene: CALCR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93426441A>C , CM000669.2:g.93426441A>C GRCh38
NC_000007.13:g.93055753A>C , CM000669.1:g.93055753A>C GRCh37
NC_000007.12:g.92893689A>C NCBI36
NG_013005.1:g.153290T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001742.4:c.1340T>G MANE Select NP_001733.1:p.Leu447Arg
ENST00000426151.7:c.1340T>G MANE Select ENSP00000389295.1:p.Leu447Arg
NM_001164737.1:c.1442T>G NP_001158209.1:p.Leu481Arg
NM_001164737.2:c.1388T>G NP_001158209.2:p.Leu463Arg
NM_001164737.3:c.1388T>G NP_001158209.2:p.Leu463Arg
NM_001164738.1:c.1340T>G NP_001158210.1:p.Leu447Arg
NM_001164738.2:c.1340T>G NP_001158210.1:p.Leu447Arg
NM_001742.3:c.1340T>G NP_001733.1:p.Leu447Arg
ENST00000359558.6:c.1442T>G ENSP00000352561.2:p.Leu481Arg
ENST00000360249.8:c.*850T>G ENSP00000353385.5:n.*850T>G
ENST00000394441.5:c.1340T>G ENSP00000377959.1:p.Leu447Arg
ENST00000415529.2:c.1390T>G ENSP00000413179.1:n.1390T>G
ENST00000421592.5:c.1388T>G ENSP00000399552.1:p.Leu463Arg
ENST00000423724.5:c.1438T>G ENSP00000391369.1:n.1438T>G
ENST00000426151.5:c.1340T>G ENSP00000389295.1:p.Leu447Arg
ENST00000649521.1:c.1388T>G ENSP00000497687.1:p.Leu463Arg