Canonical Allele Identifier: CA507795872

Gene: CBLC

Linked Data

• dbSNP Id: rs1422231091
• gnomAD v2: 19-45296863-T-C
• gnomAD v4: 19-44793606-T-C
• MyVariant Identifiers: chr19:g.45296863T>C (hg19) ; chr19:g.44793606T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793606T>C , CM000681.2:g.44793606T>C	GRCh38
NC_000019.9:g.45296863T>C , CM000681.1:g.45296863T>C	GRCh37
NC_000019.8:g.49988703T>C	NCBI36
NG_054718.1:g.20752T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1270T>C MANE Select	ENSP00000494162.1:p.Leu424=
ENST00000270279.7:c.1270T>C	ENSP00000270279.3:p.Leu424=
ENST00000341505.4:c.1132T>C	ENSP00000340250.4:p.Leu378=
NM_001130852.1:c.1132T>C	NP_001124324.1:p.Leu378=
NM_012116.3:c.1270T>C	NP_036248.3:p.Leu424=
XM_005258696.2:c.1270T>C	XP_005258753.1:p.Leu424=
XM_011526688.1:c.1270T>C	XP_011524990.1:p.Leu424=
XM_011526689.1:c.1132T>C	XP_011524991.1:p.Leu378=
XR_935783.1:n.1217T>C
NM_012116.4:c.1270T>C MANE Select	NP_036248.3:p.Leu424=
XM_005258696.3:c.1270T>C	XP_005258753.1:p.Leu424=
XM_011526688.2:c.1270T>C	XP_011524990.1:p.Leu424=
XM_011526689.2:c.1132T>C	XP_011524991.1:p.Leu378=
XR_935783.2:n.1222T>C