Canonical Allele Identifier: CA400567483

Gene: ACE

Linked Data

• COSMIC: COSM6333872 ; COSM6333873 ; COSM6333874
• MyVariant Identifiers: chr17:g.61574281G>T (hg19) ; chr17:g.63496920G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496920G>T , CM000679.2:g.63496920G>T	GRCh38
NC_000017.10:g.61574281G>T , CM000679.1:g.61574281G>T	GRCh37
NC_000017.9:g.58928013G>T	NCBI36
NG_011648.1:g.24848G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3626G>T MANE Select	ENSP00000290866.4:p.Arg1209Leu
ENST00000290863.10:c.1904G>T	ENSP00000290863.6:p.Arg635Leu
ENST00000290866.9:c.3626G>T	ENSP00000290866.4:p.Arg1209Leu
ENST00000413513.7:c.1781G>T	ENSP00000392247.3:p.Arg594Leu
ENST00000428043.5:c.3626G>T	ENSP00000397593.2:p.Arg1209Leu
ENST00000577418.5:n.636G>T
ENST00000577647.2:c.1904G>T	ENSP00000464149.1:p.Arg635Leu
ENST00000578839.5:c.*1381G>T	ENSP00000462110.2:n.*1381G>T
ENST00000579314.5:c.*1355G>T	ENSP00000462599.1:n.*1355G>T
ENST00000579409.1:c.313G>T
ENST00000582244.1:n.500G>T
NM_000789.3:c.3626G>T	NP_000780.1:p.Arg1209Leu
NM_001178057.1:c.1781G>T	NP_001171528.1:p.Arg594Leu
NM_152830.2:c.1904G>T	NP_690043.1:p.Arg635Leu
XM_005257110.1:c.3077G>T	XP_005257167.1:p.Arg1026Leu
XM_006721737.2:c.1964G>T	XP_006721800.2:p.Arg655Leu
XM_006721737.3:c.1964G>T	XP_006721800.2:p.Arg655Leu
NM_000789.4:c.3626G>T MANE Select	NP_000780.1:p.Arg1209Leu
NM_001178057.2:c.1781G>T	NP_001171528.1:p.Arg594Leu
NM_152830.3:c.1904G>T	NP_690043.1:p.Arg635Leu
NM_001382700.1:c.3059G>T	NP_001369629.1:p.Arg1020Leu
NM_001382701.1:c.2774G>T	NP_001369630.1:p.Arg925Leu
NM_001382702.1:c.1241G>T	NP_001369631.1:p.Arg414Leu
NR_168483.1:n.2004G>T