Canonical Allele Identifier: CA2976867
Community Standard Title: NM_025074.7(FRAS1):c.3191G>T (p.Arg1064Leu)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78375778G>T , CM000666.2:g.78375778G>T GRCh38
NC_000004.11:g.79296932G>T , CM000666.1:g.79296932G>T GRCh37
NC_000004.10:g.79515956G>T NCBI36
NG_015812.1:g.323209G>T
NG_015812.2:g.323209G>T

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.3191G>T MANE Select NP_079350.5:p.Arg1064Leu
ENST00000512123.4:c.3191G>T MANE Select ENSP00000422834.2:p.Arg1064Leu
NM_001166133.1:c.3191G>T NP_001159605.1:p.Arg1064Leu
NM_001166133.2:c.3191G>T NP_001159605.1:p.Arg1064Leu
NM_025074.6:c.3191G>T NP_079350.5:p.Arg1064Leu
ENST00000264899.10:c.845-68325G>T ENSP00000264899.7:n.845-68325G>T
ENST00000325942.10:c.3191G>T ENSP00000326330.6:p.Arg1064Leu
ENST00000325942.11:c.3191G>T ENSP00000326330.6:p.Arg1064Leu
ENST00000512123.3:c.3191G>T ENSP00000422834.2:p.Arg1064Leu
ENST00000682513.1:c.3191G>T ENSP00000508201.1:p.Arg1064Leu
ENST00000684159.1:c.3191G>T ENSP00000506875.1:p.Arg1064Leu
XM_006714314.1:c.3191G>T XP_006714377.1:p.Arg1064Leu
XM_006714316.1:c.3191G>T XP_006714379.1:p.Arg1064Leu
XM_006714316.3:c.3191G>T XP_006714379.1:p.Arg1064Leu
XM_011532270.1:c.890G>T XP_011530572.1:p.Arg297Leu