Canonical Allele Identifier: CA400557825

Gene: ACE

Linked Data

• dbSNP Id: rs1357262996
• gnomAD v2: 17-61566027-C-T
• COSMIC: COSM3403098 ; COSM3403099 ; COSM3403100
• MyVariant Identifiers: chr17:g.61566027C>T (hg19) ; chr17:g.63488666C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488666C>T , CM000679.2:g.63488666C>T	GRCh38
NC_000017.10:g.61566027C>T , CM000679.1:g.61566027C>T	GRCh37
NC_000017.9:g.58919759C>T	NCBI36
NG_011648.1:g.16594C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2324C>T MANE Select	ENSP00000290866.4:p.Ala775Val
ENST00000290863.10:c.602C>T	ENSP00000290863.6:p.Ala201Val
ENST00000290866.9:c.2324C>T	ENSP00000290866.4:p.Ala775Val
ENST00000413513.7:c.602C>T	ENSP00000392247.3:p.Ala201Val
ENST00000428043.5:c.2324C>T	ENSP00000397593.2:p.Ala775Val
ENST00000577647.2:c.602C>T	ENSP00000464149.1:p.Ala201Val
ENST00000578839.5:c.*394C>T	ENSP00000462110.2:n.*394C>T
ENST00000579204.1:c.583C>T	ENSP00000464629.1:n.583C>T
ENST00000579314.5:c.*53C>T	ENSP00000462599.1:n.*53C>T
ENST00000582005.5:c.*244C>T	ENSP00000462002.1:n.*244C>T
ENST00000582761.1:c.92C>T	ENSP00000462909.1:p.Ala31Val
ENST00000584865.5:n.270C>T
NM_000789.3:c.2324C>T	NP_000780.1:p.Ala775Val
NM_001178057.1:c.602C>T	NP_001171528.1:p.Ala201Val
NM_152830.2:c.602C>T	NP_690043.1:p.Ala201Val
XM_005257110.1:c.1775C>T	XP_005257167.1:p.Ala592Val
XM_006721737.2:c.662C>T	XP_006721800.2:p.Ala221Val
XM_006721737.3:c.662C>T	XP_006721800.2:p.Ala221Val
NM_000789.4:c.2324C>T MANE Select	NP_000780.1:p.Ala775Val
NM_001178057.2:c.602C>T	NP_001171528.1:p.Ala201Val
NM_152830.3:c.602C>T	NP_690043.1:p.Ala201Val
NM_001382700.1:c.1757C>T	NP_001369629.1:p.Ala586Val
NM_001382701.1:c.1472C>T	NP_001369630.1:p.Ala491Val
NM_001382702.1:c.254C>T	NP_001369631.1:p.Ala85Val
NR_168483.1:n.702C>T