Canonical Allele Identifier: CA9727014

Gene: SNPH

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.1305728C>T , CM000682.2:g.1305728C>T	GRCh38
NC_000020.10:g.1286372C>T , CM000682.1:g.1286372C>T	GRCh37
NC_000020.9:g.1234372C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381867.6:c.1291C>T MANE Select	ENSP00000371291.1:p.Arg431Trp
ENST00000649598.1:c.1258C>T	ENSP00000496966.1:p.Arg420Trp
ENST00000381867.5:c.1291C>T	ENSP00000371291.1:p.Arg431Trp
ENST00000381873.7:c.1159C>T	ENSP00000371297.3:p.Arg387Trp
ENST00000614659.1:c.1291C>T	ENSP00000479696.1:p.Arg431Trp
NM_014723.2:c.1159C>T	NP_055538.2:p.Arg387Trp
XM_005260888.2:c.1291C>T	XP_005260945.1:p.Arg431Trp
XM_005260889.2:c.1258C>T	XP_005260946.1:p.Arg420Trp
XM_011529402.1:c.1390C>T	XP_011527704.1:p.Arg464Trp
XM_011529403.1:c.1390C>T	XP_011527705.1:p.Arg464Trp
XM_011529404.1:c.1258C>T	XP_011527706.1:p.Arg420Trp
XM_011529405.1:c.1258C>T	XP_011527707.1:p.Arg420Trp
XM_011529406.1:c.1258C>T	XP_011527708.1:p.Arg420Trp
NM_001318234.1:c.1291C>T	NP_001305163.1:p.Arg431Trp
NM_014723.3:c.1159C>T	NP_055538.2:p.Arg387Trp
XM_005260889.3:c.1258C>T	XP_005260946.1:p.Arg420Trp
XM_011529402.2:c.1390C>T	XP_011527704.1:p.Arg464Trp
XM_011529403.2:c.1390C>T	XP_011527705.1:p.Arg464Trp
XM_011529404.2:c.1258C>T	XP_011527706.1:p.Arg420Trp
NM_001318234.2:c.1291C>T MANE Select	NP_001305163.1:p.Arg431Trp
NM_014723.4:c.1159C>T	NP_055538.2:p.Arg387Trp