Canonical Allele Identifier: CA7192675

Gene: CGRRF1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54537803G>A , CM000676.2:g.54537803G>A	GRCh38
NC_000014.8:g.55004521G>A , CM000676.1:g.55004521G>A	GRCh37
NC_000014.7:g.54074271G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006568.3:c.652G>A MANE Select	NP_006559.1:p.Ala218Thr
ENST00000216420.12:c.652G>A MANE Select	ENSP00000216420.7:p.Ala218Thr
NM_006568.2:c.652G>A	NP_006559.1:p.Ala218Thr
ENST00000216420.11:c.652G>A	ENSP00000216420.7:p.Ala218Thr
ENST00000554791.5:c.*50G>A	ENSP00000451532.1:n.*50G>A
ENST00000556172.1:c.82G>A	ENSP00000470702.1:p.Ala28Thr
ENST00000556216.5:n.1247G>A
ENST00000557429.1:n.1731G>A
ENST00000557512.5:n.690G>A
ENST00000557755.5:c.*377G>A	ENSP00000450728.1:n.*377G>A
ENST00000679442.1:c.*393G>A	ENSP00000505302.1:n.*393G>A
ENST00000679557.1:c.*368G>A	ENSP00000506660.1:n.*368G>A
XM_011536362.1:c.472G>A	XP_011534664.1:p.Ala158Thr
XM_011536362.2:c.472G>A	XP_011534664.1:p.Ala158Thr
XM_017020931.1:c.472G>A	XP_016876420.1:p.Ala158Thr
XM_017020932.1:c.472G>A	XP_016876421.1:p.Ala158Thr