Canonical Allele Identifier: CA390690150

Gene: CALM1

Linked Data

• MyVariant Identifiers: chr14:g.90870744G>C (hg19) ; chr14:g.90404400G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90404400G>C , CM000676.2:g.90404400G>C	GRCh38
NC_000014.8:g.90870744G>C , CM000676.1:g.90870744G>C	GRCh37
NC_000014.7:g.89940497G>C	NCBI36
NG_013338.1:g.12418G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356978.9:c.307G>C MANE Select	ENSP00000349467.4:p.Ala103Pro
ENST00000447653.8:c.199G>C	ENSP00000403491.4:p.Ala67Pro
ENST00000659177.1:c.199G>C	ENSP00000499421.1:p.Ala67Pro
ENST00000663135.1:c.199G>C	ENSP00000499498.1:p.Ala67Pro
ENST00000356978.8:c.307G>C	ENSP00000349467.4:p.Ala103Pro
ENST00000447653.7:c.310G>C	ENSP00000403491.3:p.Ala104Pro
ENST00000544280.6:c.199G>C	ENSP00000442853.2:p.Ala67Pro
ENST00000553422.1:c.179G>C	ENSP00000450425.1:p.Cys60Ser
ENST00000553542.5:c.199G>C	ENSP00000450829.1:p.Ala67Pro
ENST00000553630.1:c.200G>C	ENSP00000451646.1:p.Cys67Ser
ENST00000553964.5:n.2437G>C
ENST00000554296.1:n.359G>C
ENST00000556721.1:n.233G>C
ENST00000557020.5:c.199G>C	ENSP00000451062.1:p.Ala67Pro
ENST00000626705.2:c.166-57G>C	ENSP00000486402.1:n.166-57G>C
NM_006888.4:c.307G>C	NP_008819.1:p.Ala103Pro
XM_006720258.2:c.310G>C	XP_006720321.1:p.Ala104Pro
NM_001363669.1:c.199G>C	NP_001350598.1:p.Ala67Pro
NM_001363670.1:c.310G>C	NP_001350599.1:p.Ala104Pro
NM_006888.5:c.307G>C	NP_008819.1:p.Ala103Pro
NM_006888.6:c.307G>C MANE Select	NP_008819.1:p.Ala103Pro
NM_001363669.2:c.199G>C	NP_001350598.1:p.Ala67Pro
NM_001363670.2:c.310G>C	NP_001350599.1:p.Ala104Pro