Canonical Allele Identifier: CA2977744
Community Standard Title: NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78450162C>T , CM000666.2:g.78450162C>T GRCh38
NC_000004.11:g.79371316C>T , CM000666.1:g.79371316C>T GRCh37
NC_000004.10:g.79590340C>T NCBI36
NG_015812.1:g.397593C>T
NG_015812.2:g.397593C>T

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.6286C>T MANE Select NP_079350.5:p.Arg2096Cys
ENST00000512123.4:c.6286C>T MANE Select ENSP00000422834.2:p.Arg2096Cys
NM_025074.6:c.6286C>T NP_079350.5:p.Arg2096Cys
ENST00000509802.1:n.271C>T
ENST00000512123.3:c.6286C>T ENSP00000422834.2:p.Arg2096Cys
ENST00000682513.1:c.6286C>T ENSP00000508201.1:p.Arg2096Cys
ENST00000684159.1:c.6286C>T ENSP00000506875.1:p.Arg2096Cys
XM_006714314.1:c.6280C>T XP_006714377.1:p.Arg2094Cys
XM_006714316.1:c.6286C>T XP_006714379.1:p.Arg2096Cys
XM_006714316.3:c.6286C>T XP_006714379.1:p.Arg2096Cys
XM_011532270.1:c.3985C>T XP_011530572.1:p.Arg1329Cys
XM_011532271.1:c.1174C>T XP_011530573.1:p.Arg392Cys