Canonical Allele Identifier: CA390690133

Gene: CALM1

Linked Data

• MyVariant Identifiers: chr14:g.90870738A>C (hg19) ; chr14:g.90404394A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90404394A>C , CM000676.2:g.90404394A>C	GRCh38
NC_000014.8:g.90870738A>C , CM000676.1:g.90870738A>C	GRCh37
NC_000014.7:g.89940491A>C	NCBI36
NG_013338.1:g.12412A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356978.9:c.301A>C MANE Select	ENSP00000349467.4:p.Ile101Leu
ENST00000447653.8:c.193A>C	ENSP00000403491.4:p.Ile65Leu
ENST00000659177.1:c.193A>C	ENSP00000499421.1:p.Ile65Leu
ENST00000663135.1:c.193A>C	ENSP00000499498.1:p.Ile65Leu
ENST00000356978.8:c.301A>C	ENSP00000349467.4:p.Ile101Leu
ENST00000447653.7:c.304A>C	ENSP00000403491.3:p.Ile102Leu
ENST00000544280.6:c.193A>C	ENSP00000442853.2:p.Ile65Leu
ENST00000553422.1:c.178-5A>C	ENSP00000450425.1:n.178-5A>C
ENST00000553542.5:c.193A>C	ENSP00000450829.1:p.Ile65Leu
ENST00000553630.1:c.194A>C	ENSP00000451646.1:p.Tyr65Ser
ENST00000553964.5:n.2431A>C
ENST00000554296.1:n.353A>C
ENST00000556721.1:n.227A>C
ENST00000557020.5:c.193A>C	ENSP00000451062.1:p.Ile65Leu
ENST00000626705.2:c.166-63A>C	ENSP00000486402.1:n.166-63A>C
NM_006888.4:c.301A>C	NP_008819.1:p.Ile101Leu
XM_006720258.2:c.304A>C	XP_006720321.1:p.Ile102Leu
NM_001363669.1:c.193A>C	NP_001350598.1:p.Ile65Leu
NM_001363670.1:c.304A>C	NP_001350599.1:p.Ile102Leu
NM_006888.5:c.301A>C	NP_008819.1:p.Ile101Leu
NM_006888.6:c.301A>C MANE Select	NP_008819.1:p.Ile101Leu
NM_001363669.2:c.193A>C	NP_001350598.1:p.Ile65Leu
NM_001363670.2:c.304A>C	NP_001350599.1:p.Ile102Leu