Canonical Allele Identifier: CA357365232
Community Standard Title: NM_025074.7(FRAS1):c.988G>T (p.Glu330Ter)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78278661G>T , CM000666.2:g.78278661G>T GRCh38
NC_000004.11:g.79199815G>T , CM000666.1:g.79199815G>T GRCh37
NC_000004.10:g.79418839G>T NCBI36
NG_015812.1:g.226092G>T
NG_015812.2:g.226092G>T

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.988G>T MANE Select NP_079350.5:p.Glu330Ter
ENST00000512123.4:c.988G>T MANE Select ENSP00000422834.2:p.Glu330Ter
NM_001166133.1:c.988G>T NP_001159605.1:p.Glu330Ter
NM_001166133.2:c.988G>T NP_001159605.1:p.Glu330Ter
NM_025074.6:c.988G>T NP_079350.5:p.Glu330Ter
ENST00000264899.10:c.844+11366G>T ENSP00000264899.7:n.844+11366G>T
ENST00000325942.10:c.988G>T ENSP00000326330.6:p.Glu330Ter
ENST00000325942.11:c.988G>T ENSP00000326330.6:p.Glu330Ter
ENST00000502446.5:c.774G>T
ENST00000502446.6:c.988G>T ENSP00000423645.2:p.Glu330Ter
ENST00000508900.1:c.515G>T
ENST00000508900.2:c.988G>T ENSP00000423809.2:p.Glu330Ter
ENST00000512123.3:c.988G>T ENSP00000422834.2:p.Glu330Ter
ENST00000682513.1:c.988G>T ENSP00000508201.1:p.Glu330Ter
ENST00000682583.1:n.201G>T
ENST00000683711.1:n.1308G>T
ENST00000684159.1:c.988G>T ENSP00000506875.1:p.Glu330Ter
XM_006714314.1:c.988G>T XP_006714377.1:p.Glu330Ter
XM_006714316.1:c.988G>T XP_006714379.1:p.Glu330Ter
XM_006714316.3:c.988G>T XP_006714379.1:p.Glu330Ter