Canonical Allele Identifier: CA122736

Gene: SPTB

Linked Data

• ClinVar Variation Id: 12835
• ClinVar RCV Id: RCV000013684
• dbSNP Id: rs121918646
• MyVariant Identifiers: chr14:g.65268515A>G (hg19) ; chr14:g.64801797A>G (hg38)
• PubMed: PMID:6215583 ; PMID:8102379

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64801797A>G , CM000676.2:g.64801797A>G	GRCh38
NC_000014.8:g.65268515A>G , CM000676.1:g.65268515A>G	GRCh37
NC_000014.7:g.64338268A>G	NCBI36
NG_016202.1:g.26352T>C
NG_016202.2:g.83096T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389720.4:c.604T>C	ENSP00000374370.4:p.Trp202Arg
ENST00000644917.1:c.604T>C MANE Select	ENSP00000495909.1:p.Trp202Arg
ENST00000389720.3:c.604T>C	ENSP00000374370.3:p.Trp202Arg
ENST00000389721.9:c.604T>C	ENSP00000374371.5:p.Trp202Arg
ENST00000389722.7:c.604T>C	ENSP00000374372.3:p.Trp202Arg
ENST00000556626.5:c.604T>C	ENSP00000451752.1:p.Trp202Arg
NM_000347.5:c.604T>C	NP_000338.3:p.Trp202Arg
NM_001024858.2:c.604T>C	NP_001020029.1:p.Trp202Arg
XM_005268023.3:c.604T>C	XP_005268080.1:p.Trp202Arg
XM_011537105.1:c.604T>C	XP_011535407.1:p.Trp202Arg
NM_001024858.3:c.604T>C	NP_001020029.1:p.Trp202Arg
NM_001355436.2:c.604T>C MANE Select	NP_001342365.1:p.Trp202Arg
NM_001355437.2:c.604T>C	NP_001342366.1:p.Trp202Arg
XM_011537105.3:c.604T>C	XP_011535407.1:p.Trp202Arg
XM_017021612.2:c.604T>C	XP_016877101.1:p.Trp202Arg
XM_024449699.1:c.604T>C	XP_024305467.1:p.Trp202Arg
NM_001024858.4:c.604T>C	NP_001020029.1:p.Trp202Arg