Canonical Allele Identifier: CA406306790

Gene: CBLC

Linked Data

• MyVariant Identifiers: chr19:g.45296758T>C (hg19) ; chr19:g.44793501T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793501T>C , CM000681.2:g.44793501T>C	GRCh38
NC_000019.9:g.45296758T>C , CM000681.1:g.45296758T>C	GRCh37
NC_000019.8:g.49988598T>C	NCBI36
NG_054718.1:g.20647T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1165T>C MANE Select	ENSP00000494162.1:p.Cys389Arg
ENST00000270279.7:c.1165T>C	ENSP00000270279.3:p.Cys389Arg
ENST00000341505.4:c.1027T>C	ENSP00000340250.4:p.Cys343Arg
NM_001130852.1:c.1027T>C	NP_001124324.1:p.Cys343Arg
NM_012116.3:c.1165T>C	NP_036248.3:p.Cys389Arg
XM_005258696.2:c.1165T>C	XP_005258753.1:p.Cys389Arg
XM_011526688.1:c.1165T>C	XP_011524990.1:p.Cys389Arg
XM_011526689.1:c.1027T>C	XP_011524991.1:p.Cys343Arg
XR_935783.1:n.1112T>C
NM_012116.4:c.1165T>C MANE Select	NP_036248.3:p.Cys389Arg
XM_005258696.3:c.1165T>C	XP_005258753.1:p.Cys389Arg
XM_011526688.2:c.1165T>C	XP_011524990.1:p.Cys389Arg
XM_011526689.2:c.1027T>C	XP_011524991.1:p.Cys343Arg
XR_935783.2:n.1117T>C