Canonical Allele Identifier: CA9732324

Gene: SNRPB

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2461790G>A , CM000682.2:g.2461790G>A	GRCh38
NC_000020.10:g.2442436G>A , CM000682.1:g.2442436G>A	GRCh37
NC_000020.9:g.2390436G>A	NCBI36
NG_042057.1:g.14064C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003091.4:c.*139C>T MANE Select	NP_003082.1:n.*139C>T
ENST00000381342.7:c.*139C>T MANE Select	ENSP00000370746.3:n.*139C>T
NM_003091.3:c.*139C>T	NP_003082.1:n.*139C>T
NM_198216.1:c.689C>T	NP_937859.1:p.Pro230Leu
NM_198216.2:c.689C>T	NP_937859.1:p.Pro230Leu
ENST00000339610.10:c.833C>T	ENSP00000342305.7:p.Pro278Leu
ENST00000381342.6:c.*139C>T	ENSP00000370746.2:n.*139C>T
ENST00000438552.6:c.689C>T	ENSP00000412566.2:p.Pro230Leu
ENST00000474384.2:c.*600C>T	ENSP00000474579.1:n.*600C>T
ENST00000688423.1:n.3934C>T
ENST00000688450.1:n.1915C>T
ENST00000688775.1:n.2719C>T
ENST00000689440.1:n.2430C>T
ENST00000689611.1:n.2780C>T
ENST00000693393.1:n.3417C>T