Canonical Allele Identifier: CA8102704

Gene: MATCAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67180163G>A , CM000678.2:g.67180163G>A	GRCh38
NC_000016.9:g.67214066G>A , CM000678.1:g.67214066G>A	GRCh37
NC_000016.8:g.65771567G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001040715.2:c.448C>T MANE Select	NP_001035805.1:p.Arg150Cys
ENST00000563902.2:c.448C>T MANE Select	ENSP00000456838.1:p.Arg150Cys
NM_001040715.1:c.448C>T	NP_001035805.1:p.Arg150Cys
NM_001369680.1:c.448C>T	NP_001356609.1:p.Arg150Cys
NM_001369681.1:c.448C>T	NP_001356610.1:p.Arg150Cys
NM_001369682.1:c.448C>T	NP_001356611.1:p.Arg150Cys
NM_001369684.1:c.448C>T	NP_001356613.1:p.Arg150Cys
NM_001369685.1:c.448C>T	NP_001356614.1:p.Arg150Cys
NM_001369686.1:c.448C>T	NP_001356615.1:p.Arg150Cys
NM_001369687.1:c.448C>T	NP_001356616.1:p.Arg150Cys
ENST00000290881.11:c.448C>T	ENSP00000290881.7:p.Arg150Cys
ENST00000561621.5:c.448C>T	ENSP00000457099.1:p.Arg150Cys
ENST00000563831.2:n.326-1659C>T
ENST00000563902.1:c.448C>T	ENSP00000456838.1:p.Arg150Cys
ENST00000564423.1:n.92-48C>T
ENST00000570009.1:n.193C>T