Canonical Allele Identifier: CA8700581

Gene: ACE

Linked Data

• ClinVar Variation Id: 2214745
• ClinVar RCV Id: RCV002660936
• dbSNP Id: rs779175881
• ExAC: 17:61574320 C / T
• gnomAD v2: 17-61574320-C-T
• gnomAD v3: 17-63496959-C-T
• gnomAD v4: 17-63496959-C-T
• MyVariant Identifiers: chr17:g.61574320C>T (hg19) ; chr17:g.63496959C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496959C>T , CM000679.2:g.63496959C>T	GRCh38
NC_000017.10:g.61574320C>T , CM000679.1:g.61574320C>T	GRCh37
NC_000017.9:g.58928052C>T	NCBI36
NG_011648.1:g.24887C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3665C>T MANE Select	ENSP00000290866.4:p.Pro1222Leu
ENST00000290863.10:c.1943C>T	ENSP00000290863.6:p.Pro648Leu
ENST00000290866.9:c.3665C>T	ENSP00000290866.4:p.Pro1222Leu
ENST00000413513.7:c.1820C>T	ENSP00000392247.3:p.Pro607Leu
ENST00000428043.5:c.3665C>T	ENSP00000397593.2:p.Pro1222Leu
ENST00000577418.5:n.675C>T
ENST00000577647.2:c.1943C>T	ENSP00000464149.1:p.Pro648Leu
ENST00000578839.5:c.*1420C>T	ENSP00000462110.2:n.*1420C>T
ENST00000579314.5:c.*1394C>T	ENSP00000462599.1:n.*1394C>T
ENST00000579409.1:c.352C>T
ENST00000582244.1:n.539C>T
NM_000789.3:c.3665C>T	NP_000780.1:p.Pro1222Leu
NM_001178057.1:c.1820C>T	NP_001171528.1:p.Pro607Leu
NM_152830.2:c.1943C>T	NP_690043.1:p.Pro648Leu
XM_005257110.1:c.3116C>T	XP_005257167.1:p.Pro1039Leu
XM_006721737.2:c.2003C>T	XP_006721800.2:p.Pro668Leu
XM_006721737.3:c.2003C>T	XP_006721800.2:p.Pro668Leu
NM_000789.4:c.3665C>T MANE Select	NP_000780.1:p.Pro1222Leu
NM_001178057.2:c.1820C>T	NP_001171528.1:p.Pro607Leu
NM_152830.3:c.1943C>T	NP_690043.1:p.Pro648Leu
NM_001382700.1:c.3098C>T	NP_001369629.1:p.Pro1033Leu
NM_001382701.1:c.2813C>T	NP_001369630.1:p.Pro938Leu
NM_001382702.1:c.1280C>T	NP_001369631.1:p.Pro427Leu
NR_168483.1:n.2043C>T