Canonical Allele Identifier: CA802302

Gene: C1orf50

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42767380A>C , CM000663.2:g.42767380A>C	GRCh38
NC_000001.10:g.43233051A>C , CM000663.1:g.43233051A>C	GRCh37
NC_000001.9:g.43005638A>C	NCBI36
NG_008123.1:g.4705T>G , LRG_5:g.4705T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685942.1:n.103A>C
ENST00000687946.1:c.69A>C	ENSP00000509479.1:p.Ala23=
ENST00000691126.1:n.95A>C
ENST00000691927.1:n.92A>C
ENST00000692016.1:n.62A>C
ENST00000692952.1:n.87A>C
ENST00000693399.1:n.136A>C
ENST00000372525.7:c.69A>C MANE Select	ENSP00000361603.4:p.Ala23=
ENST00000603943.6:c.69A>C	ENSP00000473874.1:p.Ala23=
ENST00000650521.1:c.69A>C	ENSP00000498207.1:p.Ala23=
ENST00000372525.5:c.69A>C	ENSP00000361603.4:p.Ala23=
ENST00000464081.1:c.69A>C	ENSP00000473339.1:p.Ala23=
ENST00000603943.5:c.69A>C	ENSP00000473874.1:p.Ala23=
NM_024097.3:c.69A>C	NP_077002.2:p.Ala23=
NR_040733.1:n.136A>C
NM_024097.4:c.69A>C MANE Select	NP_077002.2:p.Ala23=
NR_040733.2:n.132A>C