Canonical Allele Identifier: CA2659055754

Gene: SPTBN1

Linked Data

• gnomAD v4: 2-54457421-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.54457421G>C , CM000664.2:g.54457421G>C	GRCh38
NC_000002.11:g.54684558G>C , CM000664.1:g.54684558G>C	GRCh37
NC_000002.10:g.54538062G>C	NCBI36
NG_029817.1:g.6105G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356805.9:c.-48+903G>C MANE Select	ENSP00000349259.4:n.-48+903G>C
ENST00000356805.8:c.-48+903G>C	ENSP00000349259.4:n.-48+903G>C
ENST00000389980.7:c.-48+114G>C	ENSP00000374630.3:n.-48+114G>C
ENST00000615901.4:c.-48+903G>C	ENSP00000479037.1:n.-48+903G>C
NM_003128.2:c.-48+903G>C	NP_003119.2:n.-48+903G>C
XM_005264517.1:c.-48+114G>C	XP_005264574.1:n.-48+114G>C
XM_006712087.1:c.-48+152G>C	XP_006712150.1:n.-48+152G>C
XM_005264517.2:c.-48+114G>C	XP_005264574.1:n.-48+114G>C
XM_006712087.3:c.-48+152G>C	XP_006712150.1:n.-48+152G>C
XM_017004779.1:c.-48+501G>C	XP_016860268.1:n.-48+501G>C
XM_017004781.1:c.-48+456G>C	XP_016860270.1:n.-48+456G>C
NM_003128.3:c.-48+903G>C MANE Select	NP_003119.2:n.-48+903G>C