Canonical Allele Identifier: CA1871446080
Community Standard Title: NM_014334.4(FRRS1L):c.692G= (p.Trp231=)
Gene: FRRS1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.109141360C= , CM000671.2:g.109141360C= GRCh38
NC_000009.11:g.111903640C= , CM000671.1:g.111903640C= GRCh37
NC_000009.10:g.110943461C= NCBI36
NG_051235.1:g.30932G=

Transcript Alleles

HGVS Amino-acid Change
NM_014334.4:c.692G= MANE Select NP_055149.3:p.Trp231=
ENST00000561981.5:c.692G= MANE Select ENSP00000477141.2:p.Trp231=
NM_014334.2:c.845G= NP_055149.2:p.Trp282=
NM_014334.3:c.845G= NP_055149.2:p.Trp282=
ENST00000561981.2:c.845G= ENSP00000477141.1:p.Trp282=
ENST00000642157.1:n.2927G=
ENST00000644736.1:c.689G=
ENST00000644747.1:c.472G= ENSP00000493964.1:n.472G=
ENST00000645180.1:n.1443G=
XM_011518453.1:c.497G= XP_011516755.1:p.Trp166=
XM_011518454.1:c.497G= XP_011516756.1:p.Trp166=
XM_011518454.3:c.497G= XP_011516756.1:p.Trp166=