Canonical Allele Identifier: CA390690436
Community Standard Title: NM_006888.6(CALM1):c.422A>G (p.Glu141Gly)
Gene: CALM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.90404689A>G , CM000676.2:g.90404689A>G GRCh38
NC_000014.8:g.90871033A>G , CM000676.1:g.90871033A>G GRCh37
NC_000014.7:g.89940786A>G NCBI36
NG_013338.1:g.12707A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006888.6:c.422A>G MANE Select NP_008819.1:p.Glu141Gly
ENST00000356978.9:c.422A>G MANE Select ENSP00000349467.4:p.Glu141Gly
NM_001363669.1:c.314A>G NP_001350598.1:p.Glu105Gly
NM_001363669.2:c.314A>G NP_001350598.1:p.Glu105Gly
NM_001363670.1:c.425A>G NP_001350599.1:p.Glu142Gly
NM_001363670.2:c.425A>G NP_001350599.1:p.Glu142Gly
NM_006888.4:c.422A>G NP_008819.1:p.Glu141Gly
NM_006888.5:c.422A>G NP_008819.1:p.Glu141Gly
ENST00000356978.8:c.422A>G ENSP00000349467.4:p.Glu141Gly
ENST00000447653.7:c.425A>G ENSP00000403491.3:p.Glu142Gly
ENST00000447653.8:c.314A>G ENSP00000403491.4:p.Glu105Gly
ENST00000544280.6:c.314A>G ENSP00000442853.2:p.Glu105Gly
ENST00000553422.1:c.294A>G ENSP00000450425.1:n.294A>G
ENST00000553542.5:c.314A>G ENSP00000450829.1:p.Glu105Gly
ENST00000553630.1:c.*63A>G ENSP00000451646.1:n.*63A>G
ENST00000553964.5:n.2552A>G
ENST00000554296.1:n.474A>G
ENST00000556721.1:n.348A>G
ENST00000626705.2:c.224A>G ENSP00000486402.1:p.Glu75Gly
ENST00000659177.1:c.314A>G ENSP00000499421.1:p.Glu105Gly
ENST00000663135.1:c.314A>G ENSP00000499498.1:p.Glu105Gly
XM_006720258.2:c.425A>G XP_006720321.1:p.Glu142Gly