Canonical Allele Identifier: CA5548924
Community Standard Title: NM_001198800.3(ASCC1):c.778C>T (p.Arg260Cys)
Gene: ASCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72133150G>A , CM000672.2:g.72133150G>A GRCh38
NC_000010.10:g.73892908G>A , CM000672.1:g.73892908G>A GRCh37
NC_000010.9:g.73562914G>A NCBI36
NG_031890.1:g.88985C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001198800.3:c.778C>T MANE Select NP_001185729.1:p.Arg260Cys
ENST00000672957.1:c.778C>T MANE Select ENSP00000500935.1:p.Arg260Cys
NM_001198798.2:c.778C>T NP_001185727.1:p.Arg260Cys
NM_001198799.2:c.862C>T NP_001185728.1:p.Arg288Cys
NM_001198799.3:c.862C>T NP_001185728.1:p.Arg288Cys
NM_001198800.2:c.778C>T NP_001185729.1:p.Arg260Cys
NM_001369085.1:c.844C>T NP_001356014.1:p.Arg282Cys
NM_001369086.1:c.844C>T NP_001356015.1:p.Arg282Cys
NM_001369087.1:c.778C>T NP_001356016.1:p.Arg260Cys
NM_001369088.1:c.778C>T NP_001356017.1:p.Arg260Cys
NM_001369089.1:c.778C>T NP_001356018.1:p.Arg260Cys
NM_001369090.1:c.778C>T NP_001356019.1:p.Arg260Cys
NM_001369091.1:c.778C>T NP_001356020.1:p.Arg260Cys
NM_001369092.1:c.778C>T NP_001356021.1:p.Arg260Cys
NM_001369093.1:c.778C>T NP_001356022.1:p.Arg260Cys
NM_001369094.1:c.778C>T NP_001356023.1:p.Arg260Cys
NM_001369095.1:c.778C>T NP_001356024.1:p.Arg260Cys
NM_001369096.1:c.778C>T NP_001356025.1:p.Arg260Cys
NM_001369097.1:c.778C>T NP_001356026.1:p.Arg260Cys
NM_001369098.1:c.778C>T NP_001356027.1:p.Arg260Cys
NM_001369099.1:c.724C>T NP_001356028.1:p.Arg242Cys
NM_001369100.1:c.658C>T NP_001356029.1:p.Arg220Cys
NM_001369101.1:c.661C>T NP_001356030.1:p.Arg221Cys
NM_001369102.1:c.661C>T NP_001356031.1:p.Arg221Cys
NM_001369103.1:c.658C>T NP_001356032.1:p.Arg220Cys
NM_001369104.1:c.658C>T NP_001356033.1:p.Arg220Cys
NM_001369105.1:c.661C>T NP_001356034.1:p.Arg221Cys
NM_001369106.1:c.661C>T NP_001356035.1:p.Arg221Cys
NM_001369107.1:c.661C>T NP_001356036.1:p.Arg221Cys
NM_001369108.1:c.658C>T NP_001356037.1:p.Arg220Cys
NM_001369109.1:c.658C>T NP_001356038.1:p.Arg220Cys
NM_001369110.1:c.778C>T NP_001356039.1:p.Arg260Cys
NM_001369111.1:c.778C>T NP_001356040.1:p.Arg260Cys
NM_001369112.1:c.658C>T NP_001356041.1:p.Arg220Cys
NR_045564.1:n.1125C>T
ENST00000317126.8:c.778C>T ENSP00000320461.4:p.Arg260Cys
ENST00000317168.10:c.778C>T ENSP00000320810.6:p.Arg260Cys
ENST00000317168.11:c.658C>T ENSP00000320810.7:p.Arg220Cys
ENST00000342444.8:c.862C>T ENSP00000339404.4:p.Arg288Cys
ENST00000394915.7:c.862C>T ENSP00000378373.3:p.Arg288Cys
ENST00000394919.5:c.778C>T ENSP00000378377.1:p.Arg260Cys
ENST00000486689.6:c.572C>T
ENST00000525286.5:c.348C>T
ENST00000525286.6:c.348C>T
ENST00000530394.5:c.171C>T
ENST00000534259.1:n.1314C>T
ENST00000671788.1:c.778C>T ENSP00000500906.1:p.Arg260Cys
ENST00000672121.1:c.565C>T ENSP00000500771.1:p.Arg189Cys
ENST00000672774.1:c.838C>T ENSP00000500488.1:p.Arg280Cys
ENST00000672809.1:n.297+19719C>T
ENST00000672940.1:c.658C>T ENSP00000500074.1:p.Arg220Cys
ENST00000673599.1:c.*684C>T ENSP00000499820.1:n.*684C>T
XM_006717873.2:c.778C>T XP_006717936.1:p.Arg260Cys
XM_006717873.4:c.778C>T XP_006717936.1:p.Arg260Cys
XM_011539840.1:c.778C>T XP_011538142.1:p.Arg260Cys
XM_011539841.1:c.778C>T XP_011538143.1:p.Arg260Cys
XM_011539841.3:c.778C>T XP_011538143.1:p.Arg260Cys
XM_011539842.1:c.778C>T XP_011538144.1:p.Arg260Cys
XM_011539842.3:c.778C>T XP_011538144.1:p.Arg260Cys
XM_011539843.1:c.658C>T XP_011538145.1:p.Arg220Cys
XM_011539844.1:c.778C>T XP_011538146.1:p.Arg260Cys
XM_017016291.2:c.778C>T XP_016871780.1:p.Arg260Cys
XM_017016292.2:c.778C>T XP_016871781.1:p.Arg260Cys
XM_017016293.2:c.778C>T XP_016871782.1:p.Arg260Cys
XM_017016294.2:c.778C>T XP_016871783.1:p.Arg260Cys
XM_024448030.1:c.844C>T XP_024303798.1:p.Arg282Cys
XM_024448031.1:c.844C>T XP_024303799.1:p.Arg282Cys
XM_024448032.1:c.844C>T XP_024303800.1:p.Arg282Cys