Canonical Allele Identifier: CA718750

Gene: SMPDL3B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.27956044C>T , CM000663.2:g.27956044C>T	GRCh38
NC_000001.10:g.28282555C>T , CM000663.1:g.28282555C>T	GRCh37
NC_000001.9:g.28155142C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014474.4:c.967C>T MANE Select	NP_055289.2:p.Arg323Trp
ENST00000373894.8:c.967C>T MANE Select	ENSP00000363001.3:p.Arg323Trp
NM_001009568.2:c.967C>T	NP_001009568.1:p.Arg323Trp
NM_001009568.3:c.967C>T	NP_001009568.1:p.Arg323Trp
NM_001304579.1:c.349C>T	NP_001291508.1:p.Arg117Trp
NM_001304579.2:c.349C>T	NP_001291508.1:p.Arg117Trp
NM_014474.3:c.967C>T	NP_055289.2:p.Arg323Trp
ENST00000373888.8:c.967C>T	ENSP00000362995.4:p.Arg323Trp
ENST00000373894.7:c.967C>T	ENSP00000363001.3:p.Arg323Trp
ENST00000548116.5:c.*729C>T	ENSP00000449057.1:n.*729C>T
ENST00000549094.1:c.823C>T	ENSP00000449450.1:p.Arg275Trp
XM_011541259.1:c.1057C>T	XP_011539561.1:p.Arg353Trp
XM_011541259.2:c.1057C>T	XP_011539561.1:p.Arg353Trp
XM_011541260.1:c.736C>T	XP_011539562.1:p.Arg246Trp
XM_011541260.2:c.736C>T	XP_011539562.1:p.Arg246Trp