Canonical Allele Identifier: CA4867916

Gene: FAM91A1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.123785651G>A , CM000670.2:g.123785651G>A	GRCh38
NC_000008.10:g.124797891G>A , CM000670.1:g.124797891G>A	GRCh37
NC_000008.9:g.124867072G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_144963.4:c.872G>A MANE Select	NP_659400.3:p.Arg291Gln
ENST00000334705.12:c.872G>A MANE Select	ENSP00000335082.7:p.Arg291Gln
NM_001317917.1:c.146G>A	NP_001304846.1:p.Arg49Gln
NM_001317917.2:c.146G>A	NP_001304846.2:p.Arg49Gln
NM_001317918.1:c.872G>A	NP_001304847.1:p.Arg291Gln
NM_144963.2:c.872G>A	NP_659400.2:p.Arg291Gln
NM_144963.3:c.872G>A	NP_659400.2:p.Arg291Gln
ENST00000334705.11:c.872G>A	ENSP00000335082.7:p.Arg291Gln
ENST00000517912.1:c.232G>A
ENST00000519721.5:c.*222G>A	ENSP00000429784.1:n.*222G>A
ENST00000521166.5:c.872G>A	ENSP00000429491.1:p.Arg291Gln
XM_005250806.2:c.872G>A	XP_005250863.1:p.Arg291Gln
XM_011516869.1:c.146G>A	XP_011515171.1:p.Arg49Gln
XR_001745485.2:n.1072G>A