Canonical Allele Identifier: CA1251756330

Gene: SPTBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.54457336C= , CM000664.2:g.54457336C=	GRCh38
NC_000002.11:g.54684473C= , CM000664.1:g.54684473C=	GRCh37
NC_000002.10:g.54537977C=	NCBI36
NG_029817.1:g.6020C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000356805.9:c.-48+818C= MANE Select	ENSP00000349259.4:n.-48+818C=
ENST00000356805.8:c.-48+818C=	ENSP00000349259.4:n.-48+818C=
ENST00000389980.7:c.-48+29C=	ENSP00000374630.3:n.-48+29C=
ENST00000615901.4:c.-48+818C=	ENSP00000479037.1:n.-48+818C=
NM_003128.2:c.-48+818C=	NP_003119.2:n.-48+818C=
XM_005264517.1:c.-48+29C=	XP_005264574.1:n.-48+29C=
XM_006712087.1:c.-48+67C=	XP_006712150.1:n.-48+67C=
XM_005264517.2:c.-48+29C=	XP_005264574.1:n.-48+29C=
XM_006712087.3:c.-48+67C=	XP_006712150.1:n.-48+67C=
XM_017004779.1:c.-48+416C=	XP_016860268.1:n.-48+416C=
XM_017004781.1:c.-48+371C=	XP_016860270.1:n.-48+371C=
NM_003128.3:c.-48+818C= MANE Select	NP_003119.2:n.-48+818C=