Canonical Allele Identifier: CA16142693

Gene: SFMBT1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53028645T>C , CM000665.2:g.53028645T>C	GRCh38
NC_000003.11:g.53062661T>C , CM000665.1:g.53062661T>C	GRCh37
NC_000003.10:g.53037701T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394752.8:c.-131+17171A>G MANE Select	ENSP00000378235.2:n.-131+17171A>G
ENST00000394752.7:c.-131+17171A>G	ENSP00000378235.2:n.-131+17171A>G
ENST00000470575.5:n.443+14491A>G
ENST00000474837.5:n.411-10417A>G
ENST00000482396.5:c.-131+14491A>G	ENSP00000418860.1:n.-131+14491A>G
ENST00000483069.5:c.-131+17815A>G	ENSP00000418950.1:n.-131+17815A>G
ENST00000497586.5:c.-366-9523A>G	ENSP00000419215.1:n.-366-9523A>G
ENST00000607283.5:c.584-9523A>G
ENST00000607495.5:c.448-9523A>G
NM_016329.3:c.-131+17171A>G	NP_057413.2:n.-131+17171A>G
XM_005265221.2:c.-131+16301A>G	XP_005265278.1:n.-131+16301A>G
XM_006713203.2:c.-131+14491A>G	XP_006713266.1:n.-131+14491A>G
XM_006713204.2:c.-131+17815A>G	XP_006713267.1:n.-131+17815A>G
XM_011533824.1:c.-131+14491A>G	XP_011532126.1:n.-131+14491A>G
XM_011533825.1:c.-131+14491A>G	XP_011532127.1:n.-131+14491A>G
XM_011534353.1:c.237-16291T>C	XP_011532655.1:n.237-16291T>C
XM_005265221.3:c.-131+16301A>G	XP_005265278.1:n.-131+16301A>G
XM_006713203.4:c.-131+14491A>G	XP_006713266.1:n.-131+14491A>G
XM_006713204.3:c.-131+17815A>G	XP_006713267.1:n.-131+17815A>G
XM_011533824.2:c.-131+14491A>G	XP_011532126.1:n.-131+14491A>G
XM_011533825.2:c.-131+14491A>G	XP_011532127.1:n.-131+14491A>G
NM_016329.4:c.-131+17171A>G MANE Select	NP_057413.2:n.-131+17171A>G