Canonical Allele Identifier: CA186017
Gene: CALM1 HGNC NCBI
MaveDb:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.90403951T>C , CM000676.2:g.90403951T>C GRCh38
NC_000014.8:g.90870295T>C , CM000676.1:g.90870295T>C GRCh37
NC_000014.7:g.89940048T>C NCBI36
NG_013338.1:g.11969T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356978.9:c.268T>C MANE Select ENSP00000349467.4:p.Phe90Leu
ENST00000447653.8:c.160T>C ENSP00000403491.4:p.Phe54Leu
ENST00000659177.1:c.160T>C ENSP00000499421.1:p.Phe54Leu
ENST00000663135.1:c.160T>C ENSP00000499498.1:p.Phe54Leu
ENST00000356978.8:c.268T>C ENSP00000349467.4:p.Phe90Leu
ENST00000447653.7:c.271T>C ENSP00000403491.3:p.Phe91Leu
ENST00000544280.6:c.160T>C ENSP00000442853.2:p.Phe54Leu
ENST00000553422.1:c.160T>C ENSP00000450425.1:p.Phe54Leu
ENST00000553542.5:c.160T>C ENSP00000450829.1:p.Phe54Leu
ENST00000553630.1:c.179-428T>C ENSP00000451646.1:n.179-428T>C
ENST00000553964.5:n.2398T>C
ENST00000553995.5:n.467T>C
ENST00000554296.1:n.320T>C
ENST00000555267.1:n.352T>C
ENST00000557020.5:c.160T>C ENSP00000451062.1:p.Phe54Leu
ENST00000626705.2:c.166-506T>C ENSP00000486402.1:n.166-506T>C
NM_006888.4:c.268T>C NP_008819.1:p.Phe90Leu
XM_006720258.2:c.271T>C XP_006720321.1:p.Phe91Leu
NM_001363669.1:c.160T>C NP_001350598.1:p.Phe54Leu
NM_001363670.1:c.271T>C NP_001350599.1:p.Phe91Leu
NM_006888.5:c.268T>C NP_008819.1:p.Phe90Leu
NM_006888.6:c.268T>C MANE Select NP_008819.1:p.Phe90Leu
NM_001363669.2:c.160T>C NP_001350598.1:p.Phe54Leu
NM_001363670.2:c.271T>C NP_001350599.1:p.Phe91Leu