Canonical Allele Identifier: CA770178363

Gene: SPTBN1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.54491044T>A , CM000664.2:g.54491044T>A	GRCh38
NC_000002.11:g.54718181T>A , CM000664.1:g.54718181T>A	GRCh37
NC_000002.10:g.54571685T>A	NCBI36
NG_029817.1:g.39728T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356805.9:c.-48+34526T>A MANE Select	ENSP00000349259.4:n.-48+34526T>A
ENST00000356805.8:c.-48+34526T>A	ENSP00000349259.4:n.-48+34526T>A
ENST00000389980.7:c.-48+33737T>A	ENSP00000374630.3:n.-48+33737T>A
ENST00000615901.4:c.-48+34526T>A	ENSP00000479037.1:n.-48+34526T>A
NM_003128.2:c.-48+34526T>A	NP_003119.2:n.-48+34526T>A
XM_005264517.1:c.-48+33737T>A	XP_005264574.1:n.-48+33737T>A
XM_006712087.1:c.-48+33775T>A	XP_006712150.1:n.-48+33775T>A
XM_005264517.2:c.-48+33737T>A	XP_005264574.1:n.-48+33737T>A
XM_006712087.3:c.-48+33775T>A	XP_006712150.1:n.-48+33775T>A
XM_017004779.1:c.-48+34124T>A	XP_016860268.1:n.-48+34124T>A
XM_017004780.1:c.-48+32867T>A	XP_016860269.1:n.-48+32867T>A
XM_017004781.1:c.-48+34079T>A	XP_016860270.1:n.-48+34079T>A
NM_003128.3:c.-48+34526T>A MANE Select	NP_003119.2:n.-48+34526T>A