Canonical Allele Identifier: CA390689483

Gene: CALM1

Linked Data

• ClinVar Variation Id: 475380
• ClinVar RCV Id: RCV000548067
• dbSNP Id: rs1555365887
• MyVariant Identifiers: chr14:g.90867725A>G (hg19) ; chr14:g.90401381A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90401381A>G , CM000676.2:g.90401381A>G	GRCh38
NC_000014.8:g.90867725A>G , CM000676.1:g.90867725A>G	GRCh37
NC_000014.7:g.89937478A>G	NCBI36
NG_013338.1:g.9399A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356978.9:c.157A>G MANE Select	ENSP00000349467.4:p.Ile53Val
ENST00000447653.8:c.49A>G	ENSP00000403491.4:p.Ile17Val
ENST00000659177.1:c.49A>G	ENSP00000499421.1:p.Ile17Val
ENST00000663135.1:c.49A>G	ENSP00000499498.1:p.Ile17Val
ENST00000356978.8:c.157A>G	ENSP00000349467.4:p.Ile53Val
ENST00000447653.7:c.160A>G	ENSP00000403491.3:p.Ile54Val
ENST00000544280.6:c.49A>G	ENSP00000442853.2:p.Ile17Val
ENST00000553422.1:c.49A>G	ENSP00000450425.1:p.Ile17Val
ENST00000553542.5:c.49A>G	ENSP00000450829.1:p.Ile17Val
ENST00000553630.1:c.157A>G	ENSP00000451646.1:p.Ile53Val
ENST00000553964.5:n.2287A>G
ENST00000553995.5:n.356A>G
ENST00000555267.1:n.241A>G
ENST00000556757.5:n.356A>G
ENST00000557020.5:c.49A>G	ENSP00000451062.1:p.Ile17Val
ENST00000626705.2:c.157A>G	ENSP00000486402.1:p.Ile53Val
NM_006888.4:c.157A>G	NP_008819.1:p.Ile53Val
XM_006720258.2:c.160A>G	XP_006720321.1:p.Ile54Val
NM_001363669.1:c.49A>G	NP_001350598.1:p.Ile17Val
NM_001363670.1:c.160A>G	NP_001350599.1:p.Ile54Val
NM_006888.5:c.157A>G	NP_008819.1:p.Ile53Val
NM_006888.6:c.157A>G MANE Select	NP_008819.1:p.Ile53Val
NM_001363669.2:c.49A>G	NP_001350598.1:p.Ile17Val
NM_001363670.2:c.160A>G	NP_001350599.1:p.Ile54Val