Canonical Allele Identifier: CA390690129

Gene: CALM1

Linked Data

• ClinVar Variation Id: 1712675
• ClinVar RCV Id: RCV002300847
• gnomAD v4: 14-90404392-A-G
• MyVariant Identifiers: chr14:g.90870736A>G (hg19) ; chr14:g.90404392A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90404392A>G , CM000676.2:g.90404392A>G	GRCh38
NC_000014.8:g.90870736A>G , CM000676.1:g.90870736A>G	GRCh37
NC_000014.7:g.89940489A>G	NCBI36
NG_013338.1:g.12410A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356978.9:c.299A>G MANE Select	ENSP00000349467.4:p.Tyr100Cys
ENST00000447653.8:c.191A>G	ENSP00000403491.4:p.Tyr64Cys
ENST00000659177.1:c.191A>G	ENSP00000499421.1:p.Tyr64Cys
ENST00000663135.1:c.191A>G	ENSP00000499498.1:p.Tyr64Cys
ENST00000356978.8:c.299A>G	ENSP00000349467.4:p.Tyr100Cys
ENST00000447653.7:c.302A>G	ENSP00000403491.3:p.Tyr101Cys
ENST00000544280.6:c.191A>G	ENSP00000442853.2:p.Tyr64Cys
ENST00000553422.1:c.178-7A>G	ENSP00000450425.1:n.178-7A>G
ENST00000553542.5:c.191A>G	ENSP00000450829.1:p.Tyr64Cys
ENST00000553630.1:c.192A>G	ENSP00000451646.1:p.Leu64=
ENST00000553964.5:n.2429A>G
ENST00000554296.1:n.351A>G
ENST00000556721.1:n.225A>G
ENST00000557020.5:c.191A>G	ENSP00000451062.1:p.Tyr64Cys
ENST00000626705.2:c.166-65A>G	ENSP00000486402.1:n.166-65A>G
NM_006888.4:c.299A>G	NP_008819.1:p.Tyr100Cys
XM_006720258.2:c.302A>G	XP_006720321.1:p.Tyr101Cys
NM_001363669.1:c.191A>G	NP_001350598.1:p.Tyr64Cys
NM_001363670.1:c.302A>G	NP_001350599.1:p.Tyr101Cys
NM_006888.5:c.299A>G	NP_008819.1:p.Tyr100Cys
NM_006888.6:c.299A>G MANE Select	NP_008819.1:p.Tyr100Cys
NM_001363669.2:c.191A>G	NP_001350598.1:p.Tyr64Cys
NM_001363670.2:c.302A>G	NP_001350599.1:p.Tyr101Cys