Canonical Allele Identifier: CA343812

Gene: CALM1

Linked Data

• ClinVar Variation Id: 39758
• ClinVar RCV Id: RCV000032977 ; RCV000157134 ; RCV000526484 ; RCV000714909 ; RCV002433484
• dbSNP Id: rs267607277
• MyVariant Identifiers: chr14:g.90870730A>G (hg19) ; chr14:g.90404386A>G (hg38)
• PubMed: PMID:20301466 ; PMID:23040497 ; PMID:24563457

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90404386A>G , CM000676.2:g.90404386A>G	GRCh38
NC_000014.8:g.90870730A>G , CM000676.1:g.90870730A>G	GRCh37
NC_000014.7:g.89940483A>G	NCBI36
NG_013338.1:g.12404A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356978.9:c.293A>G MANE Select	ENSP00000349467.4:p.Asn98Ser
ENST00000447653.8:c.185A>G	ENSP00000403491.4:p.Asn62Ser
ENST00000659177.1:c.185A>G	ENSP00000499421.1:p.Asn62Ser
ENST00000663135.1:c.185A>G	ENSP00000499498.1:p.Asn62Ser
ENST00000356978.8:c.293A>G	ENSP00000349467.4:p.Asn98Ser
ENST00000447653.7:c.296A>G	ENSP00000403491.3:p.Asn99Ser
ENST00000544280.6:c.185A>G	ENSP00000442853.2:p.Asn62Ser
ENST00000553422.1:c.178-13A>G	ENSP00000450425.1:n.178-13A>G
ENST00000553542.5:c.185A>G	ENSP00000450829.1:p.Asn62Ser
ENST00000553630.1:c.186A>G	ENSP00000451646.1:p.Gln62=
ENST00000553964.5:n.2423A>G
ENST00000554296.1:n.345A>G
ENST00000556721.1:n.219A>G
ENST00000557020.5:c.185A>G	ENSP00000451062.1:p.Asn62Ser
ENST00000626705.2:c.166-71A>G	ENSP00000486402.1:n.166-71A>G
NM_006888.4:c.293A>G	NP_008819.1:p.Asn98Ser
XM_006720258.2:c.296A>G	XP_006720321.1:p.Asn99Ser
NM_001363669.1:c.185A>G	NP_001350598.1:p.Asn62Ser
NM_001363670.1:c.296A>G	NP_001350599.1:p.Asn99Ser
NM_006888.5:c.293A>G	NP_008819.1:p.Asn98Ser
NM_006888.6:c.293A>G MANE Select	NP_008819.1:p.Asn98Ser
NM_001363669.2:c.185A>G	NP_001350598.1:p.Asn62Ser
NM_001363670.2:c.296A>G	NP_001350599.1:p.Asn99Ser