Canonical Allele Identifier: CA2976780
Community Standard Title: NM_025074.7(FRAS1):c.2962G>A (p.Val988Met)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78372810G>A , CM000666.2:g.78372810G>A GRCh38
NC_000004.11:g.79293964G>A , CM000666.1:g.79293964G>A GRCh37
NC_000004.10:g.79512988G>A NCBI36
NG_015812.1:g.320241G>A
NG_015812.2:g.320241G>A

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.2962G>A MANE Select NP_079350.5:p.Val988Met
ENST00000512123.4:c.2962G>A MANE Select ENSP00000422834.2:p.Val988Met
NM_001166133.1:c.2962G>A NP_001159605.1:p.Val988Met
NM_001166133.2:c.2962G>A NP_001159605.1:p.Val988Met
NM_025074.6:c.2962G>A NP_079350.5:p.Val988Met
ENST00000264899.10:c.845-71293G>A ENSP00000264899.7:n.845-71293G>A
ENST00000325942.10:c.2962G>A ENSP00000326330.6:p.Val988Met
ENST00000325942.11:c.2962G>A ENSP00000326330.6:p.Val988Met
ENST00000512123.3:c.2962G>A ENSP00000422834.2:p.Val988Met
ENST00000682513.1:c.2962G>A ENSP00000508201.1:p.Val988Met
ENST00000684159.1:c.2962G>A ENSP00000506875.1:p.Val988Met
XM_006714314.1:c.2962G>A XP_006714377.1:p.Val988Met
XM_006714316.1:c.2962G>A XP_006714379.1:p.Val988Met
XM_006714316.3:c.2962G>A XP_006714379.1:p.Val988Met
XM_011532270.1:c.661G>A XP_011530572.1:p.Val221Met