Canonical Allele Identifier: CA2976483
Community Standard Title: NM_025074.7(FRAS1):c.1914G>A (p.Leu638=)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78317462G>A , CM000666.2:g.78317462G>A GRCh38
NC_000004.11:g.79238616G>A , CM000666.1:g.79238616G>A GRCh37
NC_000004.10:g.79457640G>A NCBI36
NG_015812.1:g.264893G>A
NG_015812.2:g.264893G>A

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.1914G>A MANE Select NP_079350.5:p.Leu638=
ENST00000512123.4:c.1914G>A MANE Select ENSP00000422834.2:p.Leu638=
NM_001166133.1:c.1914G>A NP_001159605.1:p.Leu638=
NM_001166133.2:c.1914G>A NP_001159605.1:p.Leu638=
NM_025074.6:c.1914G>A NP_079350.5:p.Leu638=
ENST00000264899.10:c.844+50167G>A ENSP00000264899.7:n.844+50167G>A
ENST00000325942.10:c.1914G>A ENSP00000326330.6:p.Leu638=
ENST00000325942.11:c.1914G>A ENSP00000326330.6:p.Leu638=
ENST00000502446.5:c.1700G>A
ENST00000502446.6:c.1914G>A ENSP00000423645.2:p.Leu638=
ENST00000508900.1:c.1441G>A
ENST00000508900.2:c.1914G>A ENSP00000423809.2:p.Leu638=
ENST00000512123.3:c.1914G>A ENSP00000422834.2:p.Leu638=
ENST00000682513.1:c.1914G>A ENSP00000508201.1:p.Leu638=
ENST00000682583.1:n.1140G>A
ENST00000684159.1:c.1914G>A ENSP00000506875.1:p.Leu638=
XM_006714314.1:c.1914G>A XP_006714377.1:p.Leu638=
XM_006714316.1:c.1914G>A XP_006714379.1:p.Leu638=
XM_006714316.3:c.1914G>A XP_006714379.1:p.Leu638=