Canonical Allele Identifier: CA343809

Gene: CALM1

Linked Data

• ClinVar Variation Id: 39757
• ClinVar RCV Id: RCV000032976 ; RCV000157133
• dbSNP Id: rs267607276
• MyVariant Identifiers: chr14:g.90867729A>T (hg19) ; chr14:g.90401385A>T (hg38)
• PubMed: PMID:20301466 ; PMID:23040497

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90401385A>T , CM000676.2:g.90401385A>T	GRCh38
NC_000014.8:g.90867729A>T , CM000676.1:g.90867729A>T	GRCh37
NC_000014.7:g.89937482A>T	NCBI36
NG_013338.1:g.9403A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356978.9:c.161A>T MANE Select	ENSP00000349467.4:p.Asn54Ile
ENST00000447653.8:c.53A>T	ENSP00000403491.4:p.Asn18Ile
ENST00000659177.1:c.53A>T	ENSP00000499421.1:p.Asn18Ile
ENST00000663135.1:c.53A>T	ENSP00000499498.1:p.Asn18Ile
ENST00000356978.8:c.161A>T	ENSP00000349467.4:p.Asn54Ile
ENST00000447653.7:c.164A>T	ENSP00000403491.3:p.Asn55Ile
ENST00000544280.6:c.53A>T	ENSP00000442853.2:p.Asn18Ile
ENST00000553422.1:c.53A>T	ENSP00000450425.1:p.Asn18Ile
ENST00000553542.5:c.53A>T	ENSP00000450829.1:p.Asn18Ile
ENST00000553630.1:c.161A>T	ENSP00000451646.1:p.Asn54Ile
ENST00000553964.5:n.2291A>T
ENST00000553995.5:n.360A>T
ENST00000555267.1:n.245A>T
ENST00000556757.5:n.360A>T
ENST00000557020.5:c.53A>T	ENSP00000451062.1:p.Asn18Ile
ENST00000626705.2:c.161A>T	ENSP00000486402.1:p.Asn54Ile
NM_006888.4:c.161A>T	NP_008819.1:p.Asn54Ile
XM_006720258.2:c.164A>T	XP_006720321.1:p.Asn55Ile
NM_001363669.1:c.53A>T	NP_001350598.1:p.Asn18Ile
NM_001363670.1:c.164A>T	NP_001350599.1:p.Asn55Ile
NM_006888.5:c.161A>T	NP_008819.1:p.Asn54Ile
NM_006888.6:c.161A>T MANE Select	NP_008819.1:p.Asn54Ile
NM_001363669.2:c.53A>T	NP_001350598.1:p.Asn18Ile
NM_001363670.2:c.164A>T	NP_001350599.1:p.Asn55Ile