Canonical Allele Identifier: CA400567858

Gene: ACE

Linked Data

• dbSNP Id: rs967933744
• gnomAD v2: 17-61574337-C-T
• gnomAD v4: 17-63496976-C-T
• COSMIC: COSM1385158 ; COSM1385159 ; COSM4648062
• MyVariant Identifiers: chr17:g.61574337C>T (hg19) ; chr17:g.63496976C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496976C>T , CM000679.2:g.63496976C>T	GRCh38
NC_000017.10:g.61574337C>T , CM000679.1:g.61574337C>T	GRCh37
NC_000017.9:g.58928069C>T	NCBI36
NG_011648.1:g.24904C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3682C>T MANE Select	ENSP00000290866.4:p.Pro1228Ser
ENST00000290863.10:c.1960C>T	ENSP00000290863.6:p.Pro654Ser
ENST00000290866.9:c.3682C>T	ENSP00000290866.4:p.Pro1228Ser
ENST00000413513.7:c.1837C>T	ENSP00000392247.3:p.Pro613Ser
ENST00000428043.5:c.3682C>T	ENSP00000397593.2:p.Pro1228Ser
ENST00000577418.5:n.692C>T
ENST00000577647.2:c.1960C>T	ENSP00000464149.1:p.Pro654Ser
ENST00000578839.5:c.*1437C>T	ENSP00000462110.2:n.*1437C>T
ENST00000579314.5:c.*1411C>T	ENSP00000462599.1:n.*1411C>T
ENST00000579409.1:c.369C>T
ENST00000582244.1:n.556C>T
NM_000789.3:c.3682C>T	NP_000780.1:p.Pro1228Ser
NM_001178057.1:c.1837C>T	NP_001171528.1:p.Pro613Ser
NM_152830.2:c.1960C>T	NP_690043.1:p.Pro654Ser
XM_005257110.1:c.3133C>T	XP_005257167.1:p.Pro1045Ser
XM_006721737.2:c.2020C>T	XP_006721800.2:p.Pro674Ser
XM_006721737.3:c.2020C>T	XP_006721800.2:p.Pro674Ser
NM_000789.4:c.3682C>T MANE Select	NP_000780.1:p.Pro1228Ser
NM_001178057.2:c.1837C>T	NP_001171528.1:p.Pro613Ser
NM_152830.3:c.1960C>T	NP_690043.1:p.Pro654Ser
NM_001382700.1:c.3115C>T	NP_001369629.1:p.Pro1039Ser
NM_001382701.1:c.2830C>T	NP_001369630.1:p.Pro944Ser
NM_001382702.1:c.1297C>T	NP_001369631.1:p.Pro433Ser
NR_168483.1:n.2060C>T