Canonical Allele Identifier: CA8102519

Gene: MATCAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67178018G>T , CM000678.2:g.67178018G>T	GRCh38
NC_000016.9:g.67211921G>T , CM000678.1:g.67211921G>T	GRCh37
NC_000016.8:g.65769422G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001040715.2:c.1243C>A MANE Select	NP_001035805.1:p.Leu415Met
ENST00000563902.2:c.1243C>A MANE Select	ENSP00000456838.1:p.Leu415Met
NM_001040715.1:c.1243C>A	NP_001035805.1:p.Leu415Met
NM_001369680.1:c.1243C>A	NP_001356609.1:p.Leu415Met
NM_001369681.1:c.1243C>A	NP_001356610.1:p.Leu415Met
NM_001369682.1:c.1243C>A	NP_001356611.1:p.Leu415Met
NM_001369684.1:c.1243C>A	NP_001356613.1:p.Leu415Met
NM_001369685.1:c.1243C>A	NP_001356614.1:p.Leu415Met
NM_001369686.1:c.1243C>A	NP_001356615.1:p.Leu415Met
NM_001369687.1:c.*6C>A	NP_001356616.1:n.*6C>A
ENST00000290881.11:c.1243C>A	ENSP00000290881.7:p.Leu415Met
ENST00000561621.5:c.*6C>A	ENSP00000457099.1:n.*6C>A
ENST00000561679.5:n.1444C>A
ENST00000563831.2:n.631+181C>A
ENST00000563902.1:c.1243C>A	ENSP00000456838.1:p.Leu415Met
ENST00000563918.5:n.464C>A
ENST00000568563.5:c.605+181C>A