Canonical Allele Identifier: CA2659055628

Gene: SPTBN1

Linked Data

• gnomAD v4: 2-54457324-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.54457324G>T , CM000664.2:g.54457324G>T	GRCh38
NC_000002.11:g.54684461G>T , CM000664.1:g.54684461G>T	GRCh37
NC_000002.10:g.54537965G>T	NCBI36
NG_029817.1:g.6008G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356805.9:c.-48+806G>T MANE Select	ENSP00000349259.4:n.-48+806G>T
ENST00000356805.8:c.-48+806G>T	ENSP00000349259.4:n.-48+806G>T
ENST00000389980.7:c.-48+17G>T	ENSP00000374630.3:n.-48+17G>T
ENST00000615901.4:c.-48+806G>T	ENSP00000479037.1:n.-48+806G>T
NM_003128.2:c.-48+806G>T	NP_003119.2:n.-48+806G>T
XM_005264517.1:c.-48+17G>T	XP_005264574.1:n.-48+17G>T
XM_006712087.1:c.-48+55G>T	XP_006712150.1:n.-48+55G>T
XM_005264517.2:c.-48+17G>T	XP_005264574.1:n.-48+17G>T
XM_006712087.3:c.-48+55G>T	XP_006712150.1:n.-48+55G>T
XM_017004779.1:c.-48+404G>T	XP_016860268.1:n.-48+404G>T
XM_017004781.1:c.-48+359G>T	XP_016860270.1:n.-48+359G>T
NM_003128.3:c.-48+806G>T MANE Select	NP_003119.2:n.-48+806G>T