Canonical Allele Identifier: CA16606882
Gene: CALM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 384090
ClinVar RCV Id: RCV000431318
dbSNP Id: rs1057521851

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.90401312A>C , CM000676.2:g.90401312A>C GRCh38
NC_000014.8:g.90867656A>C , CM000676.1:g.90867656A>C GRCh37
NC_000014.7:g.89937409A>C NCBI36
NG_013338.1:g.9330A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356978.9:c.88A>C MANE Select ENSP00000349467.4:p.Thr30Pro
ENST00000447653.8:c.-21A>C ENSP00000403491.4:n.-21A>C
ENST00000659177.1:c.-21A>C ENSP00000499421.1:n.-21A>C
ENST00000663135.1:c.-21A>C ENSP00000499498.1:n.-21A>C
ENST00000356978.8:c.88A>C ENSP00000349467.4:p.Thr30Pro
ENST00000447653.7:c.91A>C ENSP00000403491.3:p.Thr31Pro
ENST00000544280.6:c.-21A>C ENSP00000442853.2:n.-21A>C
ENST00000553542.5:c.-21A>C ENSP00000450829.1:n.-21A>C
ENST00000553630.1:c.88A>C ENSP00000451646.1:p.Thr30Pro
ENST00000553964.5:n.2218A>C
ENST00000553995.5:n.287A>C
ENST00000555267.1:n.172A>C
ENST00000556757.5:n.287A>C
ENST00000557020.5:c.-21A>C ENSP00000451062.1:n.-21A>C
ENST00000626705.2:c.88A>C ENSP00000486402.1:p.Thr30Pro
NM_006888.4:c.88A>C NP_008819.1:p.Thr30Pro
XM_006720258.2:c.91A>C XP_006720321.1:p.Thr31Pro
NM_001363669.1:c.-21A>C NP_001350598.1:n.-21A>C
NM_001363670.1:c.91A>C NP_001350599.1:p.Thr31Pro
NM_006888.5:c.88A>C NP_008819.1:p.Thr30Pro
NM_006888.6:c.88A>C MANE Select NP_008819.1:p.Thr30Pro
NM_001363669.2:c.-21A>C NP_001350598.1:n.-21A>C
NM_001363670.2:c.91A>C NP_001350599.1:p.Thr31Pro