Canonical Allele Identifier: CA390031881

Gene: SPTB

Linked Data

• ClinVar Variation Id: 544811
• ClinVar RCV Id: RCV000655908 ; RCV003133483 ; RCV003432719
• dbSNP Id: rs1555371769
• gnomAD v4: 14-64801754-C-T
• MyVariant Identifiers: chr14:g.65268472C>T (hg19) ; chr14:g.64801754C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64801754C>T , CM000676.2:g.64801754C>T	GRCh38
NC_000014.8:g.65268472C>T , CM000676.1:g.65268472C>T	GRCh37
NC_000014.7:g.64338225C>T	NCBI36
NG_016202.1:g.26395G>A
NG_016202.2:g.83139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389720.4:c.647G>A	ENSP00000374370.4:p.Arg216Gln
ENST00000644917.1:c.647G>A MANE Select	ENSP00000495909.1:p.Arg216Gln
ENST00000389720.3:c.647G>A	ENSP00000374370.3:p.Arg216Gln
ENST00000389721.9:c.647G>A	ENSP00000374371.5:p.Arg216Gln
ENST00000389722.7:c.647G>A	ENSP00000374372.3:p.Arg216Gln
ENST00000556626.5:c.647G>A	ENSP00000451752.1:p.Arg216Gln
NM_000347.5:c.647G>A	NP_000338.3:p.Arg216Gln
NM_001024858.2:c.647G>A	NP_001020029.1:p.Arg216Gln
XM_005268023.3:c.647G>A	XP_005268080.1:p.Arg216Gln
XM_011537105.1:c.647G>A	XP_011535407.1:p.Arg216Gln
NM_001024858.3:c.647G>A	NP_001020029.1:p.Arg216Gln
NM_001355436.2:c.647G>A MANE Select	NP_001342365.1:p.Arg216Gln
NM_001355437.2:c.647G>A	NP_001342366.1:p.Arg216Gln
XM_011537105.3:c.647G>A	XP_011535407.1:p.Arg216Gln
XM_017021612.2:c.647G>A	XP_016877101.1:p.Arg216Gln
XM_024449699.1:c.647G>A	XP_024305467.1:p.Arg216Gln
NM_001024858.4:c.647G>A	NP_001020029.1:p.Arg216Gln