Canonical Allele Identifier: CA2338111231

Gene: CBLC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793792G= , CM000681.2:g.44793792G=	GRCh38
NC_000019.9:g.45297049G= , CM000681.1:g.45297049G=	GRCh37
NC_000019.8:g.49988889G=	NCBI36
NG_054718.1:g.20938G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+172G= MANE Select	ENSP00000494162.1:n.1284+172G=
ENST00000270279.7:c.1284+172G=	ENSP00000270279.3:n.1284+172G=
ENST00000341505.4:c.1146+172G=	ENSP00000340250.4:n.1146+172G=
NM_001130852.1:c.1146+172G=	NP_001124324.1:n.1146+172G=
NM_012116.3:c.1284+172G=	NP_036248.3:n.1284+172G=
XM_005258696.2:c.1284+172G=	XP_005258753.1:n.1284+172G=
XM_011526688.1:c.1284+172G=	XP_011524990.1:n.1284+172G=
XM_011526689.1:c.1146+172G=	XP_011524991.1:n.1146+172G=
XR_935783.1:n.1231+172G=
NM_012116.4:c.1284+172G= MANE Select	NP_036248.3:n.1284+172G=
XM_005258696.3:c.1284+172G=	XP_005258753.1:n.1284+172G=
XM_011526688.2:c.1284+172G=	XP_011524990.1:n.1284+172G=
XM_011526689.2:c.1146+172G=	XP_011524991.1:n.1146+172G=
XR_935783.2:n.1236+172G=