Canonical Allele Identifier: CA390690352
Community Standard Title: NM_006888.6(CALM1):c.394G>A (p.Asp132Asn)
Gene: CALM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.90404487G>A , CM000676.2:g.90404487G>A GRCh38
NC_000014.8:g.90870831G>A , CM000676.1:g.90870831G>A GRCh37
NC_000014.7:g.89940584G>A NCBI36
NG_013338.1:g.12505G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006888.6:c.394G>A MANE Select NP_008819.1:p.Asp132Asn
ENST00000356978.9:c.394G>A MANE Select ENSP00000349467.4:p.Asp132Asn
NM_001363669.1:c.286G>A NP_001350598.1:p.Asp96Asn
NM_001363669.2:c.286G>A NP_001350598.1:p.Asp96Asn
NM_001363670.1:c.397G>A NP_001350599.1:p.Asp133Asn
NM_001363670.2:c.397G>A NP_001350599.1:p.Asp133Asn
NM_006888.4:c.394G>A NP_008819.1:p.Asp132Asn
NM_006888.5:c.394G>A NP_008819.1:p.Asp132Asn
ENST00000356978.8:c.394G>A ENSP00000349467.4:p.Asp132Asn
ENST00000447653.7:c.397G>A ENSP00000403491.3:p.Asp133Asn
ENST00000447653.8:c.286G>A ENSP00000403491.4:p.Asp96Asn
ENST00000544280.6:c.286G>A ENSP00000442853.2:p.Asp96Asn
ENST00000553422.1:c.266G>A ENSP00000450425.1:n.266G>A
ENST00000553542.5:c.286G>A ENSP00000450829.1:p.Asp96Asn
ENST00000553630.1:c.*35G>A ENSP00000451646.1:n.*35G>A
ENST00000553964.5:n.2524G>A
ENST00000554296.1:n.446G>A
ENST00000556721.1:n.320G>A
ENST00000557020.5:c.286G>A ENSP00000451062.1:p.Asp96Asn
ENST00000626705.2:c.196G>A ENSP00000486402.1:p.Asp66Asn
ENST00000659177.1:c.286G>A ENSP00000499421.1:p.Asp96Asn
ENST00000663135.1:c.286G>A ENSP00000499498.1:p.Asp96Asn
XM_006720258.2:c.397G>A XP_006720321.1:p.Asp133Asn