Canonical Allele Identifier: CA9732421

Gene: SNRPB

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2463118G>A , CM000682.2:g.2463118G>A	GRCh38
NC_000020.10:g.2443764G>A , CM000682.1:g.2443764G>A	GRCh37
NC_000020.9:g.2391764G>A	NCBI36
NG_042057.1:g.12736C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003091.4:c.530C>T MANE Select	NP_003082.1:p.Pro177Leu
ENST00000381342.7:c.530C>T MANE Select	ENSP00000370746.3:p.Pro177Leu
NM_003091.3:c.530C>T	NP_003082.1:p.Pro177Leu
NM_198216.1:c.530C>T	NP_937859.1:p.Pro177Leu
NM_198216.2:c.530C>T	NP_937859.1:p.Pro177Leu
ENST00000339610.10:c.530C>T	ENSP00000342305.7:p.Pro177Leu
ENST00000381342.6:c.530C>T	ENSP00000370746.2:p.Pro177Leu
ENST00000438552.6:c.530C>T	ENSP00000412566.2:p.Pro177Leu
ENST00000474384.2:c.*441C>T	ENSP00000474579.1:n.*441C>T
ENST00000688423.1:n.2933C>T
ENST00000688450.1:n.1610C>T
ENST00000688775.1:n.2414C>T
ENST00000689440.1:n.2125C>T
ENST00000689611.1:n.1779C>T
ENST00000690623.1:n.703C>T
ENST00000693393.1:n.2416C>T