Canonical Allele Identifier: CA390690114
Gene: CALM1 HGNC NCBI
MaveDb:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.90404385A>T , CM000676.2:g.90404385A>T GRCh38
NC_000014.8:g.90870729A>T , CM000676.1:g.90870729A>T GRCh37
NC_000014.7:g.89940482A>T NCBI36
NG_013338.1:g.12403A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356978.9:c.292A>T MANE Select ENSP00000349467.4:p.Asn98Tyr
ENST00000447653.8:c.184A>T ENSP00000403491.4:p.Asn62Tyr
ENST00000659177.1:c.184A>T ENSP00000499421.1:p.Asn62Tyr
ENST00000663135.1:c.184A>T ENSP00000499498.1:p.Asn62Tyr
ENST00000356978.8:c.292A>T ENSP00000349467.4:p.Asn98Tyr
ENST00000447653.7:c.295A>T ENSP00000403491.3:p.Asn99Tyr
ENST00000544280.6:c.184A>T ENSP00000442853.2:p.Asn62Tyr
ENST00000553422.1:c.178-14A>T ENSP00000450425.1:n.178-14A>T
ENST00000553542.5:c.184A>T ENSP00000450829.1:p.Asn62Tyr
ENST00000553630.1:c.185A>T ENSP00000451646.1:p.Gln62Leu
ENST00000553964.5:n.2422A>T
ENST00000554296.1:n.344A>T
ENST00000556721.1:n.218A>T
ENST00000557020.5:c.184A>T ENSP00000451062.1:p.Asn62Tyr
ENST00000626705.2:c.166-72A>T ENSP00000486402.1:n.166-72A>T
NM_006888.4:c.292A>T NP_008819.1:p.Asn98Tyr
XM_006720258.2:c.295A>T XP_006720321.1:p.Asn99Tyr
NM_001363669.1:c.184A>T NP_001350598.1:p.Asn62Tyr
NM_001363670.1:c.295A>T NP_001350599.1:p.Asn99Tyr
NM_006888.5:c.292A>T NP_008819.1:p.Asn98Tyr
NM_006888.6:c.292A>T MANE Select NP_008819.1:p.Asn98Tyr
NM_001363669.2:c.184A>T NP_001350598.1:p.Asn62Tyr
NM_001363670.2:c.295A>T NP_001350599.1:p.Asn99Tyr