Canonical Allele Identifier: CA357378328
Gene: FRAS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78407813C>T , CM000666.2:g.78407813C>T GRCh38
NC_000004.11:g.79328967C>T , CM000666.1:g.79328967C>T GRCh37
NC_000004.10:g.79547991C>T NCBI36
NG_015812.1:g.355244C>T
NG_015812.2:g.355244C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000325942.11:c.4280C>T ENSP00000326330.6:p.Pro1427Leu
ENST00000682513.1:c.4280C>T ENSP00000508201.1:p.Pro1427Leu
ENST00000684159.1:c.4280C>T ENSP00000506875.1:p.Pro1427Leu
ENST00000512123.4:c.4280C>T MANE Select ENSP00000422834.2:p.Pro1427Leu
ENST00000264899.10:c.845-36290C>T ENSP00000264899.7:n.845-36290C>T
ENST00000325942.10:c.4280C>T ENSP00000326330.6:p.Pro1427Leu
ENST00000512123.3:c.4280C>T ENSP00000422834.2:p.Pro1427Leu
NM_001166133.1:c.4280C>T NP_001159605.1:p.Pro1427Leu
NM_025074.6:c.4280C>T NP_079350.5:p.Pro1427Leu
XM_006714314.1:c.4280C>T XP_006714377.1:p.Pro1427Leu
XM_006714316.1:c.4280C>T XP_006714379.1:p.Pro1427Leu
XM_011532270.1:c.1979C>T XP_011530572.1:p.Pro660Leu
XM_006714316.3:c.4280C>T XP_006714379.1:p.Pro1427Leu
NM_025074.7:c.4280C>T MANE Select NP_079350.5:p.Pro1427Leu
NM_001166133.2:c.4280C>T NP_001159605.1:p.Pro1427Leu