Canonical Allele Identifier: CA7229765

Gene: SPTB

Linked Data

• dbSNP Id: rs752332760
• ExAC: 14:65234556 G / A
• gnomAD v2: 14-65234556-G-A
• gnomAD v4: 14-64767838-G-A
• MyVariant Identifiers: chr14:g.65234556G>A (hg19) ; chr14:g.64767838G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64767838G>A , CM000676.2:g.64767838G>A	GRCh38
NC_000014.8:g.65234556G>A , CM000676.1:g.65234556G>A	GRCh37
NC_000014.7:g.64304309G>A	NCBI36
NG_016202.1:g.60311C>T
NG_016202.2:g.117055C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389720.4:c.6044C>T	ENSP00000374370.4:p.Ser2015Leu
ENST00000644917.1:c.6044C>T MANE Select	ENSP00000495909.1:p.Ser2015Leu
ENST00000389720.3:c.6044C>T	ENSP00000374370.3:p.Ser2015Leu
ENST00000389721.9:c.6044C>T	ENSP00000374371.5:p.Ser2015Leu
ENST00000389722.7:c.6044C>T	ENSP00000374372.3:p.Ser2015Leu
ENST00000542694.2:n.376C>T
ENST00000553938.5:c.2039C>T	ENSP00000451324.1:p.Ser680Leu
ENST00000556626.5:c.6044C>T	ENSP00000451752.1:p.Ser2015Leu
NM_000347.5:c.6044C>T	NP_000338.3:p.Ser2015Leu
NM_001024858.2:c.6044C>T	NP_001020029.1:p.Ser2015Leu
XM_005268023.3:c.6044C>T	XP_005268080.1:p.Ser2015Leu
NM_001024858.3:c.6044C>T	NP_001020029.1:p.Ser2015Leu
NM_001355436.2:c.6044C>T MANE Select	NP_001342365.1:p.Ser2015Leu
NM_001355437.2:c.6044C>T	NP_001342366.1:p.Ser2015Leu
XM_017021612.2:c.6044C>T	XP_016877101.1:p.Ser2015Leu
XM_024449699.1:c.6044C>T	XP_024305467.1:p.Ser2015Leu
NM_001024858.4:c.6044C>T	NP_001020029.1:p.Ser2015Leu