Canonical Allele Identifier: CA390690445

Gene: CALM1

Linked Data

• ClinVar Variation Id: 426161
• ClinVar RCV Id: RCV000489543 ; RCV001856891
• dbSNP Id: rs1085307479
• MyVariant Identifiers: chr14:g.90871035T>C (hg19) ; chr14:g.90404691T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90404691T>C , CM000676.2:g.90404691T>C	GRCh38
NC_000014.8:g.90871035T>C , CM000676.1:g.90871035T>C	GRCh37
NC_000014.7:g.89940788T>C	NCBI36
NG_013338.1:g.12709T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356978.9:c.424T>C MANE Select	ENSP00000349467.4:p.Phe142Leu
ENST00000447653.8:c.316T>C	ENSP00000403491.4:p.Phe106Leu
ENST00000659177.1:c.316T>C	ENSP00000499421.1:p.Phe106Leu
ENST00000663135.1:c.316T>C	ENSP00000499498.1:p.Phe106Leu
ENST00000356978.8:c.424T>C	ENSP00000349467.4:p.Phe142Leu
ENST00000447653.7:c.427T>C	ENSP00000403491.3:p.Phe143Leu
ENST00000544280.6:c.316T>C	ENSP00000442853.2:p.Phe106Leu
ENST00000553422.1:c.296T>C	ENSP00000450425.1:n.296T>C
ENST00000553542.5:c.316T>C	ENSP00000450829.1:p.Phe106Leu
ENST00000553630.1:c.*65T>C	ENSP00000451646.1:n.*65T>C
ENST00000553964.5:n.2554T>C
ENST00000554296.1:n.476T>C
ENST00000556721.1:n.350T>C
ENST00000626705.2:c.226T>C	ENSP00000486402.1:p.Phe76Leu
NM_006888.4:c.424T>C	NP_008819.1:p.Phe142Leu
XM_006720258.2:c.427T>C	XP_006720321.1:p.Phe143Leu
NM_001363669.1:c.316T>C	NP_001350598.1:p.Phe106Leu
NM_001363670.1:c.427T>C	NP_001350599.1:p.Phe143Leu
NM_006888.5:c.424T>C	NP_008819.1:p.Phe142Leu
NM_006888.6:c.424T>C MANE Select	NP_008819.1:p.Phe142Leu
NM_001363669.2:c.316T>C	NP_001350598.1:p.Phe106Leu
NM_001363670.2:c.427T>C	NP_001350599.1:p.Phe143Leu