Canonical Allele Identifier: CA2978331
Community Standard Title: NM_025074.7(FRAS1):c.8341C>T (p.Arg2781Cys)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78479616C>T , CM000666.2:g.78479616C>T GRCh38
NC_000004.11:g.79400770C>T , CM000666.1:g.79400770C>T GRCh37
NC_000004.10:g.79619794C>T NCBI36
NG_015812.1:g.427047C>T
NG_015812.2:g.427047C>T

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.8341C>T MANE Select NP_079350.5:p.Arg2781Cys
ENST00000512123.4:c.8341C>T MANE Select ENSP00000422834.2:p.Arg2781Cys
NM_025074.6:c.8341C>T NP_079350.5:p.Arg2781Cys
ENST00000512123.3:c.8341C>T ENSP00000422834.2:p.Arg2781Cys
ENST00000682513.1:c.8341C>T ENSP00000508201.1:p.Arg2781Cys
XM_006714314.1:c.8335C>T XP_006714377.1:p.Arg2779Cys
XM_006714316.1:c.8113C>T XP_006714379.1:p.Arg2705Cys
XM_006714316.3:c.8113C>T XP_006714379.1:p.Arg2705Cys
XM_011532270.1:c.6040C>T XP_011530572.1:p.Arg2014Cys
XM_011532271.1:c.3229C>T XP_011530573.1:p.Arg1077Cys