Canonical Allele Identifier: CA1048006346

Gene: SFMBT1

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

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