Canonical Allele Identifier: CA390690149

Gene: CALM1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356978.9:c.307G>T MANE Select	ENSP00000349467.4:p.Ala103Ser
ENST00000447653.8:c.199G>T	ENSP00000403491.4:p.Ala67Ser
ENST00000659177.1:c.199G>T	ENSP00000499421.1:p.Ala67Ser
ENST00000663135.1:c.199G>T	ENSP00000499498.1:p.Ala67Ser
ENST00000356978.8:c.307G>T	ENSP00000349467.4:p.Ala103Ser
ENST00000447653.7:c.310G>T	ENSP00000403491.3:p.Ala104Ser
ENST00000544280.6:c.199G>T	ENSP00000442853.2:p.Ala67Ser
ENST00000553422.1:c.179G>T	ENSP00000450425.1:p.Cys60Phe
ENST00000553542.5:c.199G>T	ENSP00000450829.1:p.Ala67Ser
ENST00000553630.1:c.200G>T	ENSP00000451646.1:p.Cys67Phe
ENST00000553964.5:n.2437G>T
ENST00000554296.1:n.359G>T
ENST00000556721.1:n.233G>T
ENST00000557020.5:c.199G>T	ENSP00000451062.1:p.Ala67Ser
ENST00000626705.2:c.166-57G>T	ENSP00000486402.1:n.166-57G>T
NM_006888.4:c.307G>T	NP_008819.1:p.Ala103Ser
XM_006720258.2:c.310G>T	XP_006720321.1:p.Ala104Ser
NM_001363669.1:c.199G>T	NP_001350598.1:p.Ala67Ser
NM_001363670.1:c.310G>T	NP_001350599.1:p.Ala104Ser
NM_006888.5:c.307G>T	NP_008819.1:p.Ala103Ser
NM_006888.6:c.307G>T MANE Select	NP_008819.1:p.Ala103Ser
NM_001363669.2:c.199G>T	NP_001350598.1:p.Ala67Ser
NM_001363670.2:c.310G>T	NP_001350599.1:p.Ala104Ser