Canonical Allele Identifier: CA400567020

Gene: ACE

Linked Data

• gnomAD v4: 17-63496868-A-T
• MyVariant Identifiers: chr17:g.61574229A>T (hg19) ; chr17:g.63496868A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496868A>T , CM000679.2:g.63496868A>T	GRCh38
NC_000017.10:g.61574229A>T , CM000679.1:g.61574229A>T	GRCh37
NC_000017.9:g.58927961A>T	NCBI36
NG_011648.1:g.24796A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3574A>T MANE Select	ENSP00000290866.4:p.Met1192Leu
ENST00000290863.10:c.1852A>T	ENSP00000290863.6:p.Met618Leu
ENST00000290866.9:c.3574A>T	ENSP00000290866.4:p.Met1192Leu
ENST00000413513.7:c.1729A>T	ENSP00000392247.3:p.Met577Leu
ENST00000428043.5:c.3574A>T	ENSP00000397593.2:p.Met1192Leu
ENST00000577418.5:n.584A>T
ENST00000577647.2:c.1852A>T	ENSP00000464149.1:p.Met618Leu
ENST00000578839.5:c.*1329A>T	ENSP00000462110.2:n.*1329A>T
ENST00000579314.5:c.*1303A>T	ENSP00000462599.1:n.*1303A>T
ENST00000579409.1:c.261A>T
ENST00000582244.1:n.448A>T
NM_000789.3:c.3574A>T	NP_000780.1:p.Met1192Leu
NM_001178057.1:c.1729A>T	NP_001171528.1:p.Met577Leu
NM_152830.2:c.1852A>T	NP_690043.1:p.Met618Leu
XM_005257110.1:c.3025A>T	XP_005257167.1:p.Met1009Leu
XM_006721737.2:c.1912A>T	XP_006721800.2:p.Met638Leu
XM_006721737.3:c.1912A>T	XP_006721800.2:p.Met638Leu
NM_000789.4:c.3574A>T MANE Select	NP_000780.1:p.Met1192Leu
NM_001178057.2:c.1729A>T	NP_001171528.1:p.Met577Leu
NM_152830.3:c.1852A>T	NP_690043.1:p.Met618Leu
NM_001382700.1:c.3007A>T	NP_001369629.1:p.Met1003Leu
NM_001382701.1:c.2722A>T	NP_001369630.1:p.Met908Leu
NM_001382702.1:c.1189A>T	NP_001369631.1:p.Met397Leu
NR_168483.1:n.1952A>T